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<h1><a data-section="Header" data-ga-action="Click-on"
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data-ga-label="dbSNP Short Genetic Variations"
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ref="section=Header&action=Click-on&label=dbSNP Short Genetic Variations"
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<span class="uswds-gray tagline">Short Genetic Variations</span>
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<h3 class="usa-alert-heading">Welcome to the Reference SNP (rs) Report</h3>
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<p class="usa-alert-text">All alleles are reported in the <a href="https://www.ncbi.nlm.nih.gov/core/assets/snp/docs/RefSNP_orientation_updates.pdf" target="_blank"
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data-ga-label="Forward orientation">Variant Details tab</a> for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the
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<h3>Reference SNP (rs) Report</h3>
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<div class="usa-width-one-half">
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<ul class="utilities usa-unstyled-list align-right">
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<li title="Download in API JSON format"><a href="https://api.ncbi.nlm.nih.gov/variation/v0/refsnp/112445441"
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class="fa fa-question-circle ncbiPopper" id="mainhelp_tooltip"
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ref="section=Main&action=Click-on-Tooltip&label=main_tp"><span class="usa-sr-only">Help</span></a>
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<p id="main_tp">
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This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.<br/>
|
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Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.<br/>
|
||
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors. <br/>
|
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For more information see <a class="external-link" href="/snp/docs/refsnp_report/helpdoc"> Help documentation</a>.</p>
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<div class="usa-grid-full clearfix">
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<div class="usa-width-two-thirds">
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<div class="blue-box">
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<h2 id="refsnp_id">rs112445441</h2>
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</div>
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</div>
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<div class="accession usa-width-one-third">
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<p>Current Build <span>157</span></p>
|
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<p>Released <span>
|
||
|
||
September 3, 2024
|
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|
||
</span></p>
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</div>
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</div>
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<div class="summary-box usa-grid-full">
|
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<dl class="usa-width-one-half">
|
||
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||
<dt>Organism</dt>
|
||
<dd class="species_name">Homo sapiens</dd>
|
||
|
||
|
||
|
||
|
||
<dt>Position</dt>
|
||
<dd>
|
||
|
||
<span>chr12:25245347 </span><span>(GRCh38.p14) </span><a data-width="640px" href="#pos_tp"
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ref="section=Summary&action=Click-on-Tooltip&label=pos_tp"
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data-section="Summary" data-ga-action="Click-on-Tooltip"
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data-ga-label="pos_tp" class="fa fa-question-circle ncbiPopper" id="position_tooltip"><span class="usa-sr-only">Help</span></a><p id="pos_tp">The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See <a href="/snp/docs/refsnp_report/helpdoc/">here</a> for details.</p>
|
||
|
||
|
||
</dd>
|
||
|
||
|
||
|
||
<dt>Alleles</dt>
|
||
<dd>
|
||
|
||
|
||
C>A / C>G / C>T
|
||
|
||
</dd>
|
||
|
||
|
||
|
||
|
||
<dt>Variation Type</dt>
|
||
<dd>
|
||
|
||
SNV
|
||
|
||
|
||
|
||
<span class="small-font gray">Single Nucleotide Variation</span>
|
||
|
||
</dd>
|
||
|
||
|
||
|
||
<dt>Frequency</dt>
|
||
<dd>
|
||
|
||
<div>
|
||
T=0.0000014
|
||
(2/1400292, GnomAD_exomes)
|
||
</div><div>
|
||
T=0.000020
|
||
(3/149168, GnomAD_genomes)
|
||
</div><span>
|
||
T=0.00000 (0/11862, ALFA)
|
||
</span>
|
||
|
||
</dd>
|
||
|
||
</dl>
|
||
<dl class="usa-width-one-half">
|
||
|
||
<dt>Clinical Significance</dt>
|
||
<dd>
|
||
|
||
Reported in <a target="_blank" data-section="Summary" data-ga-action="Click-on"
|
||
data-ga-label="Reported in ClinVar"
|
||
ref="section=Summary&action=Click-on&label=Reported in ClinVar"
|
||
href="/clinvar?term=((54291[AlleleID])OR(362846[AlleleID])OR(27619[AlleleID]))">ClinVar</a>
|
||
|
||
</dd>
|
||
|
||
|
||
|
||
<dt>Gene : Consequence</dt>
|
||
<dd>
|
||
|
||
<span>KRAS : Missense Variant</span>
|
||
|
||
</dd>
|
||
|
||
<dt>Publications</dt>
|
||
<dd>
|
||
|
||
<a id="snp_pub_count" href="#publications">40
|
||
citations
|
||
</a>
|
||
|
||
</dd>
|
||
|
||
|
||
<dt>Genomic View</dt>
|
||
<dd>
|
||
<a href="#seq_hash" data-section="Summary" data-ga-action="Click-on"
|
||
data-ga-label="Genomic View See rs on genome"
|
||
ref="section=Summary&action=Click-on&label=Genomic View See rs on genome">See rs on
|
||
genome</a>
|
||
</dd>
|
||
|
||
</dl>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="js-tabs">
|
||
<ul class="js-tablist" data-section="Tab">
|
||
|
||
<li class="js-tablist__item">
|
||
<a href="#frequency_tab" ref="section=Tab&action=Click-on&label=Frequency"
|
||
data-ga-action="Click-on-horizontal" data-ga-label="Frequency" id="label_id_third"
|
||
class="js-tablist__link">Frequency
|
||
<span aria-hidden="true"></span></a>
|
||
</li>
|
||
|
||
<li class="js-tablist__item">
|
||
<a href="#variant_details" ref="section=Tab&action=Click-on&label=Variant Details"
|
||
data-ga-action="Click-on-horizontal" data-ga-label="Variant Details" id="label_id_first"
|
||
class="js-tablist__link">Variant Details
|
||
<span class="js-tablist__item-has-focus" aria-hidden="true"></span></a>
|
||
</li>
|
||
<li class="js-tablist__item">
|
||
<a href="#clinical_significance"
|
||
ref="section=Tab&action=Click-on&label=Clinical Significance"
|
||
data-ga-action="Click-on-horizontal" data-ga-label="Clinical Significance" id="label_id_second"
|
||
class="js-tablist__link">Clinical
|
||
Significance
|
||
<span aria-hidden="true"></span></a>
|
||
</li>
|
||
<li class="js-tablist__item">
|
||
<a href="#hgvs_tab" ref="section=Tab&action=Click-on&label=HGVS"
|
||
data-ga-action="Click-on-horizontal" data-ga-label="HGVS" id="label_id_fourth"
|
||
class="js-tablist__link">HGVS
|
||
<span aria-hidden="true"></span></a>
|
||
</li>
|
||
<li class="js-tablist__item">
|
||
<a href="#submissions" ref="section=Tab&action=Click-on&label=Submissions"
|
||
data-ga-action="Click-on-horizontal" data-ga-label="Submissions" id="label_id_fifth"
|
||
class="js-tablist__link">Submissions
|
||
<span aria-hidden="true"></span></a>
|
||
</li>
|
||
<li class="js-tablist__item">
|
||
<a href="#history" ref="section=Tab&action=Click-on&label=History"
|
||
data-ga-action="Click-on-horizontal" data-ga-label="History" id="label_id_sixth"
|
||
class="js-tablist__link">History
|
||
<span aria-hidden="true"></span></a>
|
||
</li>
|
||
<li class="js-tablist__item">
|
||
<a href="#publications" ref="section=Tab&action=Click-on&label=Publications"
|
||
data-ga-action="Click-on-horizontal" data-ga-label="Publications" id="label_id_seventh"
|
||
class="js-tablist__link">Publications
|
||
<span aria-hidden="true"></span></a>
|
||
</li>
|
||
<li class="js-tablist__item">
|
||
<a href="#flanks" ref="section=Tab&action=Click-on&label=Flanks"
|
||
data-ga-action="Click-on-horizontal" data-ga-label="Flanks" id="label_id_eighth"
|
||
class="js-tablist__link">Flanks
|
||
<span aria-hidden="true"></span></a>
|
||
</li>
|
||
|
||
</ul>
|
||
<div id="frequency_tab" class="js-tabcontent">
|
||
|
||
|
||
|
||
|
||
|
||
<a data-width="640px" href="#popfreq_tp"
|
||
ref="section=Frequency&action=Click-on-Popper&label=popfreq_tp"
|
||
data-section="Frequency" data-ga-action="Click-on-Popper"
|
||
data-ga-label="popfreq_tp" >
|
||
</a>
|
||
<p id="popfreq_tp">
|
||
<font size="5" color="blue"><strong><a href="/snp/docs/gsr/alfa" rel="nofollow" target="_blank">ALFA Allele Frequency</a></strong></font><br/>
|
||
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project <a href="/snp/docs/gsr/alfa" rel="nofollow" target="_blank">page</a> including descriptions, data access, and terms of use.
|
||
|
||
</p>
|
||
|
||
<div>
|
||
<span class="build_id_container"><span class="build_id_label">Release Version:</span> 20231103111315</span>
|
||
</div>
|
||
|
||
<div id="popfreq_table" data-section="PopFrequency" data-ga-action="ScrollPopFrequency" data-ga-label="popfreq" class="popfreq_table">
|
||
<table id="popfreq_datatable" class="stripe">
|
||
<thead>
|
||
<tr>
|
||
<th title="Continental population name">Population</th>
|
||
<th title="Global (total) and sub-populations">Group</th>
|
||
<th title="Total allele counts by population">Sample Size</th>
|
||
<th title="Reference assembly allele">Ref Allele</th>
|
||
<th title="Alternate allele">Alt Allele</th>
|
||
<th title="Reference Homozygous genotype Frequency">Ref HMOZ</th>
|
||
<th title="Alternate Homozygous genotype Frequency">Alt HMOZ</th>
|
||
<th title="Heterozygous genotype Frequency">HTRZ</th>
|
||
<th title="-Log(HWE Probability)">HWEP</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492705">Total</a>
|
||
|
||
</td>
|
||
<td>Global</td>
|
||
<td class="samp_s">11862</td>
|
||
<td class="popfreq_ref_allele">C=1.00000</td>
|
||
<td class="popfreq_alt_allele">T=0.00000</td>
|
||
<td class="popfreq_alt_allele">1.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">N/A</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492695">European</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">7618</td>
|
||
<td class="popfreq_ref_allele">C=1.0000</td>
|
||
<td class="popfreq_alt_allele">T=0.0000</td>
|
||
<td class="popfreq_alt_allele">1.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">N/A</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492703">African</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">2816</td>
|
||
<td class="popfreq_ref_allele">C=1.0000</td>
|
||
<td class="popfreq_alt_allele">T=0.0000</td>
|
||
<td class="popfreq_alt_allele">1.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">N/A</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492696">African Others</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">108</td>
|
||
<td class="popfreq_ref_allele">C=1.000</td>
|
||
<td class="popfreq_alt_allele">T=0.000</td>
|
||
<td class="popfreq_alt_allele">1.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">N/A</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492698">African American</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">2708</td>
|
||
<td class="popfreq_ref_allele">C=1.0000</td>
|
||
<td class="popfreq_alt_allele">T=0.0000</td>
|
||
<td class="popfreq_alt_allele">1.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">N/A</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492704">Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">108</td>
|
||
<td class="popfreq_ref_allele">C=1.000</td>
|
||
<td class="popfreq_alt_allele">T=0.000</td>
|
||
<td class="popfreq_alt_allele">1.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">N/A</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492697">East Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">84</td>
|
||
<td class="popfreq_ref_allele">C=1.00</td>
|
||
<td class="popfreq_alt_allele">T=0.00</td>
|
||
<td class="popfreq_alt_allele">1.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">N/A</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492701">Other Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">24</td>
|
||
<td class="popfreq_ref_allele">C=1.00</td>
|
||
<td class="popfreq_alt_allele">T=0.00</td>
|
||
<td class="popfreq_alt_allele">1.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">N/A</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492699">Latin American 1</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">146</td>
|
||
<td class="popfreq_ref_allele">C=1.000</td>
|
||
<td class="popfreq_alt_allele">T=0.000</td>
|
||
<td class="popfreq_alt_allele">1.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">N/A</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492700">Latin American 2</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">610</td>
|
||
<td class="popfreq_ref_allele">C=1.000</td>
|
||
<td class="popfreq_alt_allele">T=0.000</td>
|
||
<td class="popfreq_alt_allele">1.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">N/A</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492702">South Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">94</td>
|
||
<td class="popfreq_ref_allele">C=1.00</td>
|
||
<td class="popfreq_alt_allele">T=0.00</td>
|
||
<td class="popfreq_alt_allele">1.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">N/A</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN11605645">Other</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">470</td>
|
||
<td class="popfreq_ref_allele">C=1.000</td>
|
||
<td class="popfreq_alt_allele">T=0.000</td>
|
||
<td class="popfreq_alt_allele">1.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">0.0</td>
|
||
<td class="popfreq_alt_allele">N/A</td>
|
||
</tr>
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
|
||
<br/>
|
||
<br/>
|
||
</div>
|
||
|
||
|
||
<a data-width="640px" href="#frequency_tp"
|
||
ref="section=Frequency&action=Click-on-Tooltip&label=frequency_tp"
|
||
data-section="Frequency" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="frequency_tp" class="fa fa-question-circle align-right ncbiPopper">
|
||
<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="frequency_tp">
|
||
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
|
||
</p>
|
||
|
||
|
||
|
||
|
||
<a href="/snp/rs112445441/download/frequency">
|
||
<i class="fa fa-download" aria-hidden="true"></i> Download</a>
|
||
<div id="dbsnp_freq_table">
|
||
<table id="dbsnp_freq_datatable" class="stripe">
|
||
<thead>
|
||
<tr>
|
||
<th class="study_header">Study</th>
|
||
<th class="population_header">Population</th>
|
||
<th>Group</th>
|
||
<th>Sample Size</th>
|
||
<th>Ref Allele</th>
|
||
<th>Alt Allele</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Exomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
Global
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">1400292</td>
|
||
<td>C=0.9999986</td>
|
||
<td>T=0.0000014</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Exomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
European
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">1164708</td>
|
||
<td>C=0.9999983</td>
|
||
<td>T=0.0000017</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Exomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
South Asian
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">85972</td>
|
||
<td>C=1.00000</td>
|
||
<td>T=0.00000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Exomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
American
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">44658</td>
|
||
<td>C=1.00000</td>
|
||
<td>T=0.00000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Exomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
East Asian
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">39666</td>
|
||
<td>C=1.00000</td>
|
||
<td>T=0.00000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Exomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
African
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">33466</td>
|
||
<td>C=1.00000</td>
|
||
<td>T=0.00000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Exomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
Ashkenazi Jewish
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">26054</td>
|
||
<td>C=1.00000</td>
|
||
<td>T=0.00000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Exomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
Middle Eastern
|
||
|
||
</td>
|
||
<td>sub</td>
|
||
<td class="samp_s">5768</td>
|
||
<td>C=1.0000</td>
|
||
<td>T=0.0000</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
Global
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">149168</td>
|
||
<td>C=0.999980</td>
|
||
<td>T=0.000020</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
European
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">78644</td>
|
||
<td>C=0.99996</td>
|
||
<td>T=0.00004</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
African
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">41430</td>
|
||
<td>C=1.00000</td>
|
||
<td>T=0.00000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
American
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">15280</td>
|
||
<td>C=1.00000</td>
|
||
<td>T=0.00000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
East Asian
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">5202</td>
|
||
<td>C=1.0000</td>
|
||
<td>T=0.0000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
South Asian
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">4824</td>
|
||
<td>C=1.0000</td>
|
||
<td>T=0.0000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
Ashkenazi Jewish
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">3472</td>
|
||
<td>C=1.0000</td>
|
||
<td>T=0.0000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA398795">gnomAD v4 - Genomes</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
Middle Eastern
|
||
|
||
</td>
|
||
<td>sub</td>
|
||
<td class="samp_s">316</td>
|
||
<td>C=1.000</td>
|
||
<td>T=0.000</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492705">Total</a>
|
||
|
||
</td>
|
||
<td>Global</td>
|
||
<td class="samp_s">11862</td>
|
||
<td>C=1.00000</td>
|
||
<td>T=0.00000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492695">European</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">7618</td>
|
||
<td>C=1.0000</td>
|
||
<td>T=0.0000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492703">African</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">2816</td>
|
||
<td>C=1.0000</td>
|
||
<td>T=0.0000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492700">Latin American 2</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">610</td>
|
||
<td>C=1.000</td>
|
||
<td>T=0.000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN11605645">Other</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">470</td>
|
||
<td>C=1.000</td>
|
||
<td>T=0.000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492699">Latin American 1</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">146</td>
|
||
<td>C=1.000</td>
|
||
<td>T=0.000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492704">Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">108</td>
|
||
<td>C=1.000</td>
|
||
<td>T=0.000</td>
|
||
</tr>
|
||
|
||
<tr class="chi_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN10492702">South Asian</a>
|
||
|
||
</td>
|
||
<td>Sub</td>
|
||
<td class="samp_s">94</td>
|
||
<td>C=1.00</td>
|
||
<td>T=0.00</td>
|
||
</tr>
|
||
|
||
|
||
</tbody>
|
||
</table>
|
||
</div>
|
||
|
||
|
||
</div>
|
||
<div id="variant_details" class="js-tabcontent">
|
||
<a data-width="640px" href="#variant_details_tp"
|
||
ref="section=Variant Details&action=Click-on-Tooltip&label=variant_details_tp"
|
||
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="variant_details_tp" class="fa fa-question-circle align-right ncbiPopper">
|
||
<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="variant_details_tp">
|
||
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with <a class="external-link" href="/variation/docs/glossary/#MolCon" rel="nofollow" target="_blank">molecular consequences</a> from <a class="external-link" href="http://www.sequenceontology.org/" rel="nofollow" target="_blank">Sequence Ontology</a>. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.</p>
|
||
|
||
|
||
|
||
|
||
<div>
|
||
|
||
<div class="sect_heading">Genomic Placements</div>
|
||
<div id="gene_plac_allele">
|
||
<!-- display class is a short-cut for specifying the stripe hover order-column
|
||
row-border as the class name for a table -->
|
||
<table id="genomics_placements_table" class="stripe">
|
||
<thead>
|
||
<tr>
|
||
<th>Sequence name</th>
|
||
<th>Change</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
|
||
|
||
<tr>
|
||
<td>GRCh38.p14 chr 12</td>
|
||
<td>NC_000012.12:g.25245347C>A</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>GRCh38.p14 chr 12</td>
|
||
<td>NC_000012.12:g.25245347C>G</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>GRCh38.p14 chr 12</td>
|
||
<td>NC_000012.12:g.25245347C>T</td>
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td>GRCh37.p13 chr 12</td>
|
||
<td>NC_000012.11:g.25398281C>A</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>GRCh37.p13 chr 12</td>
|
||
<td>NC_000012.11:g.25398281C>G</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>GRCh37.p13 chr 12</td>
|
||
<td>NC_000012.11:g.25398281C>T</td>
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td>KRAS RefSeqGene (LRG_344)</td>
|
||
<td>NG_007524.2:g.10657G>T</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>KRAS RefSeqGene (LRG_344)</td>
|
||
<td>NG_007524.2:g.10657G>C</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>KRAS RefSeqGene (LRG_344)</td>
|
||
<td>NG_007524.2:g.10657G>A</td>
|
||
</tr>
|
||
|
||
|
||
</tbody>
|
||
</table>
|
||
</div>
|
||
|
||
|
||
|
||
<div id="trans_anno_allele">
|
||
|
||
|
||
|
||
<div class="sect_heading">
|
||
Gene: <a target="_blank" data-section="Variant Details"
|
||
data-ga-action="Click-on"
|
||
data-ga-label="transcript_annotation_gene_link"
|
||
ref="section=Variant Details&action=Click-on&label=transcript_annotation_gene_link"
|
||
href="/gene/3845">KRAS</a>, KRAS proto-oncogene, GTPase
|
||
(minus strand)
|
||
|
||
</div>
|
||
<table class="trans_anno_allele_datatable" class="stripe">
|
||
<thead>
|
||
<tr>
|
||
<th>Molecule type</th>
|
||
<th>Change</th>
|
||
<th>Amino acid[Codon]</th>
|
||
<th>SO Term</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
|
||
<tr class="vard_odd">
|
||
<td>KRAS transcript variant b</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NM_004985.5:c.38G>T
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">G [</span><span class="codon-ghost">G</span><span class="codon-hilite">G</span><span class="codon-ghost">C</span><span class="codon-plain">] > V [</span><span class="codon-ghost">G</span><span class="codon-hilite">T</span><span class="codon-ghost">C</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>GTPase KRas isoform b</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_004976.2:p.Gly13Val
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
G (Gly) > V (Val)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>KRAS transcript variant b</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NM_004985.5:c.38G>C
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">G [</span><span class="codon-ghost">G</span><span class="codon-hilite">G</span><span class="codon-ghost">C</span><span class="codon-plain">] > A [</span><span class="codon-ghost">G</span><span class="codon-hilite">C</span><span class="codon-ghost">C</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>GTPase KRas isoform b</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_004976.2:p.Gly13Ala
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
G (Gly) > A (Ala)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>KRAS transcript variant b</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NM_004985.5:c.38G>A
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">G [</span><span class="codon-ghost">G</span><span class="codon-hilite">G</span><span class="codon-ghost">C</span><span class="codon-plain">] > D [</span><span class="codon-ghost">G</span><span class="codon-hilite">A</span><span class="codon-ghost">C</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>GTPase KRas isoform b</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_004976.2:p.Gly13Asp
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
G (Gly) > D (Asp)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>KRAS transcript variant a</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NM_033360.4:c.38G>T
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">G [</span><span class="codon-ghost">G</span><span class="codon-hilite">G</span><span class="codon-ghost">C</span><span class="codon-plain">] > V [</span><span class="codon-ghost">G</span><span class="codon-hilite">T</span><span class="codon-ghost">C</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>GTPase KRas isoform a</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_203524.1:p.Gly13Val
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
G (Gly) > V (Val)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>KRAS transcript variant a</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NM_033360.4:c.38G>C
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">G [</span><span class="codon-ghost">G</span><span class="codon-hilite">G</span><span class="codon-ghost">C</span><span class="codon-plain">] > A [</span><span class="codon-ghost">G</span><span class="codon-hilite">C</span><span class="codon-ghost">C</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>GTPase KRas isoform a</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_203524.1:p.Gly13Ala
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
G (Gly) > A (Ala)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>KRAS transcript variant a</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NM_033360.4:c.38G>A
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">G [</span><span class="codon-ghost">G</span><span class="codon-hilite">G</span><span class="codon-ghost">C</span><span class="codon-plain">] > D [</span><span class="codon-ghost">G</span><span class="codon-hilite">A</span><span class="codon-ghost">C</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>GTPase KRas isoform a</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_203524.1:p.Gly13Asp
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
G (Gly) > D (Asp)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>KRAS transcript variant d</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NM_001369787.1:c.38G>T
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">G [</span><span class="codon-ghost">G</span><span class="codon-hilite">G</span><span class="codon-ghost">C</span><span class="codon-plain">] > V [</span><span class="codon-ghost">G</span><span class="codon-hilite">T</span><span class="codon-ghost">C</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>GTPase KRas isoform b</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001356716.1:p.Gly13Val
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
G (Gly) > V (Val)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>KRAS transcript variant d</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NM_001369787.1:c.38G>C
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">G [</span><span class="codon-ghost">G</span><span class="codon-hilite">G</span><span class="codon-ghost">C</span><span class="codon-plain">] > A [</span><span class="codon-ghost">G</span><span class="codon-hilite">C</span><span class="codon-ghost">C</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>GTPase KRas isoform b</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001356716.1:p.Gly13Ala
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
G (Gly) > A (Ala)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>KRAS transcript variant d</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NM_001369787.1:c.38G>A
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">G [</span><span class="codon-ghost">G</span><span class="codon-hilite">G</span><span class="codon-ghost">C</span><span class="codon-plain">] > D [</span><span class="codon-ghost">G</span><span class="codon-hilite">A</span><span class="codon-ghost">C</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>GTPase KRas isoform b</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001356716.1:p.Gly13Asp
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
G (Gly) > D (Asp)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>KRAS transcript variant c</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NM_001369786.1:c.38G>T
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">G [</span><span class="codon-ghost">G</span><span class="codon-hilite">G</span><span class="codon-ghost">C</span><span class="codon-plain">] > V [</span><span class="codon-ghost">G</span><span class="codon-hilite">T</span><span class="codon-ghost">C</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>GTPase KRas isoform a</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001356715.1:p.Gly13Val
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
G (Gly) > V (Val)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>KRAS transcript variant c</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NM_001369786.1:c.38G>C
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">G [</span><span class="codon-ghost">G</span><span class="codon-hilite">G</span><span class="codon-ghost">C</span><span class="codon-plain">] > A [</span><span class="codon-ghost">G</span><span class="codon-hilite">C</span><span class="codon-ghost">C</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>GTPase KRas isoform a</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001356715.1:p.Gly13Ala
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
G (Gly) > A (Ala)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>KRAS transcript variant c</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NM_001369786.1:c.38G>A
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">G [</span><span class="codon-ghost">G</span><span class="codon-hilite">G</span><span class="codon-ghost">C</span><span class="codon-plain">] > D [</span><span class="codon-ghost">G</span><span class="codon-hilite">A</span><span class="codon-ghost">C</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>GTPase KRas isoform a</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NP_001356715.1:p.Gly13Asp
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
G (Gly) > D (Asp)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>KRAS transcript variant X1</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
XM_047428826.1:c.38G>T
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">G [</span><span class="codon-ghost">G</span><span class="codon-hilite">G</span><span class="codon-ghost">C</span><span class="codon-plain">] > V [</span><span class="codon-ghost">G</span><span class="codon-hilite">T</span><span class="codon-ghost">C</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>GTPase KRas isoform X1</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
XP_047284782.1:p.Gly13Val
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
G (Gly) > V (Val)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_even">
|
||
<td>KRAS transcript variant X1</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
XM_047428826.1:c.38G>C
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">G [</span><span class="codon-ghost">G</span><span class="codon-hilite">G</span><span class="codon-ghost">C</span><span class="codon-plain">] > A [</span><span class="codon-ghost">G</span><span class="codon-hilite">C</span><span class="codon-ghost">C</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_even">
|
||
<td>GTPase KRas isoform X1</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
XP_047284782.1:p.Gly13Ala
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
G (Gly) > A (Ala)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="vard_odd">
|
||
<td>KRAS transcript variant X1</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
XM_047428826.1:c.38G>A
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span><span class="codon-plain">G [</span><span class="codon-ghost">G</span><span class="codon-hilite">G</span><span class="codon-ghost">C</span><span class="codon-plain">] > D [</span><span class="codon-ghost">G</span><span class="codon-hilite">A</span><span class="codon-ghost">C</span><span class="codon-plain">]</span></span>
|
||
</td>
|
||
<td>
|
||
|
||
Coding Sequence Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr class="vard_odd">
|
||
<td>GTPase KRas isoform X1</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
XP_047284782.1:p.Gly13Asp
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
G (Gly) > D (Asp)
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
Missense Variant
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div id="clinical_significance" class="js-tabcontent">
|
||
<div>
|
||
<a data-width="640px" href="#clin_sig_tp"
|
||
ref="section=Clinical Significance&action=Click-on-Tooltip&label=clinical_significance_tp"
|
||
data-section="Clinical Significance" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="clinical_significance_tp"
|
||
class="fa fa-question-circle align-right ncbiPopper">
|
||
<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="clin_sig_tp">
|
||
Clinical Significance tab shows a list of <a class="external-link" href="/clinvar/docs/clinsig" rel="nofollow" target="_blank">clinical significance </a>entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. <a href="/clinvar/RCV000001615.2" rel="nofollow" target="_blank">RCV000001615.2</a>) or Allele ID (i.e. <a href="/clinvar/variation/12274/" rel="nofollow" target="_blank">12274</a>) to access full ClinVar report.</p>
|
||
|
||
|
||
|
||
|
||
<div class="sect_heading">Allele: A (allele ID:
|
||
<a ref="section=Clinical Significance&action=Click-on&label=allele_link"
|
||
target="_blank" href="/clinvar?term=(54291[AlleleID])"
|
||
data-section="Clinical Significance"
|
||
data-ga-action="Click-on"
|
||
data-ga-label="allele_link">
|
||
54291
|
||
</a>)
|
||
</div>
|
||
|
||
<table id="clinical_significance_datatable" class="stripe" data-height="15em">
|
||
<thead>
|
||
<tr>
|
||
<th>ClinVar Accession</th>
|
||
<th>Disease Names</th>
|
||
<th>Clinical Significance</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000038270.13">RCV000038270.13</a>
|
||
</td>
|
||
<td>Non-small cell lung carcinoma</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000422238.9">RCV000422238.9</a>
|
||
</td>
|
||
<td>Thyroid tumor</td>
|
||
<td>Likely-Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000439931.9">RCV000439931.9</a>
|
||
</td>
|
||
<td>Neoplasm of the large intestine</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV001355269.10">RCV001355269.10</a>
|
||
</td>
|
||
<td>not provided</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
|
||
<div class="sect_heading">Allele: G (allele ID:
|
||
<a ref="section=Clinical Significance&action=Click-on&label=allele_link"
|
||
target="_blank" href="/clinvar?term=(362846[AlleleID])"
|
||
data-section="Clinical Significance"
|
||
data-ga-action="Click-on"
|
||
data-ga-label="allele_link">
|
||
362846
|
||
</a>)
|
||
</div>
|
||
|
||
<table id="clinical_significance_datatable" class="stripe" data-height="15em">
|
||
<thead>
|
||
<tr>
|
||
<th>ClinVar Accession</th>
|
||
<th>Disease Names</th>
|
||
<th>Clinical Significance</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000431622.1">RCV000431622.1</a>
|
||
</td>
|
||
<td>Neoplasm of the large intestine</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000444986.1">RCV000444986.1</a>
|
||
</td>
|
||
<td>Non-small cell lung carcinoma</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
|
||
<div class="sect_heading">Allele: T (allele ID:
|
||
<a ref="section=Clinical Significance&action=Click-on&label=allele_link"
|
||
target="_blank" href="/clinvar?term=(27619[AlleleID])"
|
||
data-section="Clinical Significance"
|
||
data-ga-action="Click-on"
|
||
data-ga-label="allele_link">
|
||
27619
|
||
</a>)
|
||
</div>
|
||
|
||
<table id="clinical_significance_datatable" class="stripe" data-height="15em">
|
||
<thead>
|
||
<tr>
|
||
<th>ClinVar Accession</th>
|
||
<th>Disease Names</th>
|
||
<th>Clinical Significance</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000013409.11">RCV000013409.11</a>
|
||
</td>
|
||
<td>Breast adenocarcinoma</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000038269.7">RCV000038269.7</a>
|
||
</td>
|
||
<td>Non-small cell lung carcinoma</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000144967.9">RCV000144967.9</a>
|
||
</td>
|
||
<td>Juvenile myelomonocytic leukemia</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000144968.9">RCV000144968.9</a>
|
||
</td>
|
||
<td>Autoimmune lymphoproliferative syndrome type 4</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000421576.2">RCV000421576.2</a>
|
||
</td>
|
||
<td>Neoplasm of the large intestine</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000427102.2">RCV000427102.2</a>
|
||
</td>
|
||
<td>Thyroid tumor</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000431806.2">RCV000431806.2</a>
|
||
</td>
|
||
<td>Acute myeloid leukemia</td>
|
||
<td>Likely-Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000444192.2">RCV000444192.2</a>
|
||
</td>
|
||
<td>Ovarian neoplasm</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV000791297.4">RCV000791297.4</a>
|
||
</td>
|
||
<td>OCULOECTODERMAL SYNDROME, SOMATIC</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV001092389.28">RCV001092389.28</a>
|
||
</td>
|
||
<td>not provided</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV001266168.3">RCV001266168.3</a>
|
||
</td>
|
||
<td>Inborn genetic diseases</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV001526657.3">RCV001526657.3</a>
|
||
</td>
|
||
<td>Nevus sebaceous</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV001813183.4">RCV001813183.4</a>
|
||
</td>
|
||
<td>Noonan syndrome and Noonan-related syndrome</td>
|
||
<td>Uncertain-Significance</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV001839444.3">RCV001839444.3</a>
|
||
</td>
|
||
<td>Encephalocraniocutaneous lipomatosis</td>
|
||
<td>Not-Provided</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV001857340.4">RCV001857340.4</a>
|
||
</td>
|
||
<td>RASopathy</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" data-section="Clinical Significance"
|
||
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
|
||
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
|
||
href="/clinvar/RCV004549358.1">RCV004549358.1</a>
|
||
</td>
|
||
<td>KRAS-related disorder</td>
|
||
<td>Pathogenic</td>
|
||
</tr>
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div id="hgvs_tab" class="js-tabcontent">
|
||
<a data-width="640px" href="#aliases_tp"
|
||
ref="section=HGVS&action=Click-on-Tooltip&label=aliases_tp"
|
||
data-section="HGVS" data-ga-action="Click-on-Tooltip" data-ga-label="aliases_tp"
|
||
class="fa fa-question-circle align-right ncbiPopper">
|
||
<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="aliases_tp">
|
||
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. <a href="http://varnomen.hgvs.org/">HGVS name</a> is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".</p>
|
||
|
||
<div id="hgvs">
|
||
<table id="alliases_alleles_datatable" class="stripe">
|
||
<thead class="allele_wrap">
|
||
<tr>
|
||
<th>Placement</th>
|
||
|
||
<th>
|
||
C=
|
||
</th>
|
||
|
||
<th>
|
||
A
|
||
</th>
|
||
|
||
<th>
|
||
G
|
||
</th>
|
||
|
||
<th>
|
||
T
|
||
</th>
|
||
|
||
</tr>
|
||
</thead>
|
||
<tbody class="allele_wrap">
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
GRCh38.p14 chr 12
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000012.12:g.25245347=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000012.12:g.25245347C>A
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000012.12:g.25245347C>G
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000012.12:g.25245347C>T
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
GRCh37.p13 chr 12
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000012.11:g.25398281=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000012.11:g.25398281C>A
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000012.11:g.25398281C>G
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_000012.11:g.25398281C>T
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
KRAS RefSeqGene (LRG_344)
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_007524.2:g.10657=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_007524.2:g.10657G>T
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_007524.2:g.10657G>C
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NG_007524.2:g.10657G>A
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
KRAS transcript variant b
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_004985.5:c.38=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_004985.5:c.38G>T
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_004985.5:c.38G>C
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_004985.5:c.38G>A
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
KRAS transcript variant b
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_004985.4:c.38=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_004985.4:c.38G>T
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_004985.4:c.38G>C
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_004985.4:c.38G>A
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
KRAS transcript variant b
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_004985.3:c.38=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_004985.3:c.38G>T
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_004985.3:c.38G>C
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_004985.3:c.38G>A
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
KRAS transcript variant a
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_033360.4:c.38=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_033360.4:c.38G>T
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_033360.4:c.38G>C
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_033360.4:c.38G>A
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
KRAS transcript variant a
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_033360.3:c.38=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_033360.3:c.38G>T
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_033360.3:c.38G>C
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_033360.3:c.38G>A
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
KRAS transcript variant a
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_033360.2:c.38=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_033360.2:c.38G>T
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_033360.2:c.38G>C
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_033360.2:c.38G>A
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
KRAS transcript variant c
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001369786.1:c.38=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001369786.1:c.38G>T
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001369786.1:c.38G>C
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001369786.1:c.38G>A
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
KRAS transcript variant d
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001369787.1:c.38=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001369787.1:c.38G>T
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001369787.1:c.38G>C
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NM_001369787.1:c.38G>A
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
KRAS transcript variant X1
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047428826.1:c.38=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047428826.1:c.38G>T
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047428826.1:c.38G>C
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XM_047428826.1:c.38G>A
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
GTPase KRas isoform b
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_004976.2:p.Gly13=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_004976.2:p.Gly13Val
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_004976.2:p.Gly13Ala
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_004976.2:p.Gly13Asp
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
GTPase KRas isoform a
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_203524.1:p.Gly13=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_203524.1:p.Gly13Val
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_203524.1:p.Gly13Ala
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_203524.1:p.Gly13Asp
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
GTPase KRas isoform a
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001356715.1:p.Gly13=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001356715.1:p.Gly13Val
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001356715.1:p.Gly13Ala
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001356715.1:p.Gly13Asp
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
GTPase KRas isoform b
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001356716.1:p.Gly13=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001356716.1:p.Gly13Val
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001356716.1:p.Gly13Ala
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NP_001356716.1:p.Gly13Asp
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
GTPase KRas isoform X1
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XP_047284782.1:p.Gly13=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XP_047284782.1:p.Gly13Val
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XP_047284782.1:p.Gly13Ala
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
XP_047284782.1:p.Gly13Asp
|
||
</td>
|
||
|
||
</tr>
|
||
|
||
|
||
</tbody>
|
||
</table>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div id="submissions" class="js-tabcontent">
|
||
<a data-width="640px" href="#submissions_tp"
|
||
ref="section=Submissions&action=Click-on-Tooltip&label=submissions_tp"
|
||
data-section="Submissions" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="submissions_tp" class="fa fa-question-circle align-right ncbiPopper">
|
||
<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="submissions_tp">
|
||
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs).
|
||
We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time.
|
||
Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
|
||
</p>
|
||
|
||
|
||
<div class="sect_heading">
|
||
|
||
15 SubSNP,
|
||
|
||
3 Frequency,
|
||
|
||
22 ClinVar
|
||
submissions
|
||
</div>
|
||
<div id="submission">
|
||
<table id="submission_datatable" class="stripe">
|
||
<thead>
|
||
<tr>
|
||
<th>No</th>
|
||
<th>Submitter</th>
|
||
<th>Submission ID</th>
|
||
<th>Date (Build)</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
|
||
<tr >
|
||
<td>1</td>
|
||
<td>
|
||
|
||
MPIMG-CANCERGENOMICS
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss218178530">ss218178530</a>
|
||
|
||
</td>
|
||
<td>Jul 04, 2010
|
||
(132)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>2</td>
|
||
<td>
|
||
|
||
DF-BWCC
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss275515419">ss275515419</a>
|
||
|
||
</td>
|
||
<td>Nov 22, 2010
|
||
(133)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>3</td>
|
||
<td>
|
||
|
||
DF-BWCC
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss275515421">ss275515421</a>
|
||
|
||
</td>
|
||
<td>Nov 22, 2010
|
||
(133)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>4</td>
|
||
<td>
|
||
|
||
DF-BWCC
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss275515424">ss275515424</a>
|
||
|
||
</td>
|
||
<td>Nov 22, 2010
|
||
(133)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>5</td>
|
||
<td>
|
||
|
||
OMIM-CURATED-RECORDS
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss275518590">ss275518590</a>
|
||
|
||
</td>
|
||
<td>Dec 08, 2010
|
||
(133)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>6</td>
|
||
<td>
|
||
|
||
GNOMAD
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss2739690343">ss2739690343</a>
|
||
|
||
</td>
|
||
<td>Nov 08, 2017
|
||
(151)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>7</td>
|
||
<td>
|
||
|
||
GNOMAD
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss6446343757">ss6446343757</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>8</td>
|
||
<td>
|
||
|
||
GNOMAD
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss6904380660">ss6904380660</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>9</td>
|
||
<td>
|
||
|
||
CSS-BFX
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss8442109681">ss8442109681</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>10</td>
|
||
<td>
|
||
|
||
CSS-BFX
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss8442109682">ss8442109682</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>11</td>
|
||
<td>
|
||
|
||
CSS-BFX
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss8442109683">ss8442109683</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>12</td>
|
||
<td>
|
||
|
||
EVA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss8623898439">ss8623898439</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>13</td>
|
||
<td>
|
||
|
||
EVA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss8936100291">ss8936100291</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>14</td>
|
||
<td>
|
||
|
||
EVA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss8981470286">ss8981470286</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>15</td>
|
||
<td>
|
||
|
||
EVA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss8981755492">ss8981755492</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>16</td>
|
||
<td>
|
||
|
||
gnomAD v4 - Exomes
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000012.12 - 25245347
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>17</td>
|
||
<td>
|
||
|
||
gnomAD v4 - Genomes
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000012.12 - 25245347
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>18</td>
|
||
<td>
|
||
|
||
ALFA
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_000012.12 - 25245347
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>19</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000013409.11/">RCV000013409.11</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>20</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000038269.7/">RCV000038269.7</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>21</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000038270.13/">RCV000038270.13</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>22</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000144967.9/">RCV000144967.9</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>23</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000144968.9/">RCV000144968.9</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>24</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000421576.2/">RCV000421576.2</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>25</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000422238.9/">RCV000422238.9</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>26</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000427102.2/">RCV000427102.2</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>27</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000431622.1/">RCV000431622.1</a>
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>28</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000431806.2/">RCV000431806.2</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>29</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000439931.9/">RCV000439931.9</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>30</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000444192.2/">RCV000444192.2</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>31</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000444986.1/">RCV000444986.1</a>
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>32</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV000791297.4/">RCV000791297.4</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>33</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV001092389.28/">RCV001092389.28</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>34</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV001266168.3/">RCV001266168.3</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>35</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV001355269.10/">RCV001355269.10</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>36</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV001526657.3/">RCV001526657.3</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>37</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV001813183.4/">RCV001813183.4</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>38</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV001839444.3/">RCV001839444.3</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>39</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV001857340.4/">RCV001857340.4</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>40</td>
|
||
<td>
|
||
|
||
ClinVar
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a target="_blank" data-section="Submissions"
|
||
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
|
||
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
|
||
href="/clinvar/RCV004549358.1/">RCV004549358.1</a>
|
||
|
||
</td>
|
||
<td>Nov 04, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
</div>
|
||
|
||
|
||
</div>
|
||
|
||
<div id="history" class="js-tabcontent">
|
||
<a data-width="640px" href="#history_tp"
|
||
ref="section=History&action=Click-on-Tooltip&label=history_tp"
|
||
data-section="History" data-ga-action="Click-on-Tooltip" data-ga-label="history_tp"
|
||
class="fa fa-question-circle align-right ncbiPopper">
|
||
<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="history_tp">
|
||
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).</p>
|
||
|
||
|
||
|
||
|
||
<div id="obs_present">
|
||
<span>Added to this RefSNP Cluster:</span>
|
||
|
||
|
||
<table id="obs_present_table" class="observation_table stripe">
|
||
<thead>
|
||
<tr>
|
||
<th>Submission IDs</th>
|
||
<th>Observation <a href="/variation/notation/">SPDI</a></th>
|
||
<th>Canonical <a href="/variation/notation/">SPDI</a></th>
|
||
<th>Source RSIDs</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
ss8442109681,
|
||
|
||
ss8936100291
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000012.11:25398280:C:A
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000012.12:25245346:C:A
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
RCV000038270.13,
|
||
|
||
RCV000422238.9,
|
||
|
||
RCV000439931.9,
|
||
|
||
RCV001355269.10,
|
||
|
||
ss275515424
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000012.12:25245346:C:A
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000012.12:25245346:C:A
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
ss8442109682,
|
||
|
||
ss8936100291
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000012.11:25398280:C:G
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000012.12:25245346:C:G
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
RCV000431622.1,
|
||
|
||
RCV000444986.1,
|
||
|
||
ss275515419
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000012.12:25245346:C:G
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000012.12:25245346:C:G
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
ss2739690343,
|
||
|
||
ss8442109683,
|
||
|
||
ss8623898439,
|
||
|
||
ss8936100291,
|
||
|
||
ss8981470286,
|
||
|
||
ss8981755492
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000012.11:25398280:C:T
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000012.12:25245346:C:T
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
RCV000013409.11,
|
||
|
||
RCV000038269.7,
|
||
|
||
RCV000144967.9,
|
||
|
||
RCV000144968.9,
|
||
|
||
RCV000421576.2,
|
||
|
||
RCV000427102.2,
|
||
|
||
RCV000431806.2,
|
||
|
||
RCV000444192.2,
|
||
|
||
RCV000791297.4,
|
||
|
||
RCV001092389.28,
|
||
|
||
RCV001266168.3,
|
||
|
||
RCV001526657.3,
|
||
|
||
RCV001813183.4,
|
||
|
||
RCV001839444.3,
|
||
|
||
RCV001857340.4,
|
||
|
||
RCV004549358.1,
|
||
|
||
41670264,
|
||
|
||
431627445,
|
||
|
||
11034271252,
|
||
|
||
ss275515421,
|
||
|
||
ss275518590,
|
||
|
||
ss6446343757,
|
||
|
||
ss6904380660
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000012.12:25245346:C:T
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000012.12:25245346:C:T
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
ss218178530
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NT_009714.17:18158404:C:T
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_000012.12:25245346:C:T
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
<div id="publications" class="js-tabcontent">
|
||
<a data-width="640px" href="#publications_tp"
|
||
ref="section=Publications&action=Click-on-Tooltip&label=publications_tp"
|
||
data-section="Publications" data-ga-action="Click-on-Tooltip"
|
||
data-ga-label="publications_tp" class="fa fa-question-circle align-right ncbiPopper">
|
||
<span class="usa-sr-only">Help</span>
|
||
</a>
|
||
<p id="publications_tp">
|
||
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.</p>
|
||
|
||
|
||
<div class="sect_heading">
|
||
40
|
||
citations for rs112445441
|
||
</div>
|
||
<div id="publication">
|
||
<table id="publication_datatable" class="stripe">
|
||
<thead>
|
||
<tr>
|
||
<th>PMID</th>
|
||
<th class="fir_col">Title</th>
|
||
<th>Author</th>
|
||
<th>Year</th>
|
||
<th>Journal</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/2278970"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">2278970</a>
|
||
</td>
|
||
<td class="fir_col">RAS gene mutations in childhood acute myeloid leukemia: a Pediatric Oncology Group study.</td>
|
||
<td>Vogelstein B et al.</td>
|
||
<td>1990</td>
|
||
<td>Genes, chromosomes & cancer</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/3122217"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">3122217</a>
|
||
</td>
|
||
<td class="fir_col">RAS gene mutations in acute and chronic myelocytic leukemias, chronic myeloproliferative disorders, and myelodysplastic syndromes.</td>
|
||
<td>Janssen JW et al.</td>
|
||
<td>1987</td>
|
||
<td>Proceedings of the National Academy of Sciences of the United States of America</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/3627975"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">3627975</a>
|
||
</td>
|
||
<td class="fir_col">The human c-Kirsten ras gene is activated by a novel mutation in codon 13 in the breast carcinoma cell line MDA-MB231.</td>
|
||
<td>Kozma SC et al.</td>
|
||
<td>1987</td>
|
||
<td>Nucleic acids research</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/12460918"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">12460918</a>
|
||
</td>
|
||
<td class="fir_col">BRAF and RAS mutations in human lung cancer and melanoma.</td>
|
||
<td>Brose MS et al.</td>
|
||
<td>2002</td>
|
||
<td>Cancer research</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/15696205"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">15696205</a>
|
||
</td>
|
||
<td class="fir_col">KRAS mutations and primary resistance of lung adenocarcinomas to gefitinib or erlotinib.</td>
|
||
<td>Pao W et al.</td>
|
||
<td>2005</td>
|
||
<td>PLoS medicine</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/16361624"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">16361624</a>
|
||
</td>
|
||
<td class="fir_col">Randomized phase II trial of the clinical and biological effects of two dose levels of gefitinib in patients with recurrent colorectal adenocarcinoma.</td>
|
||
<td>Rothenberg ML et al.</td>
|
||
<td>2005</td>
|
||
<td>Journal of clinical oncology </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/16434492"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">16434492</a>
|
||
</td>
|
||
<td class="fir_col">Implications of NRAS mutations in AML: a study of 2502 patients.</td>
|
||
<td>Bacher U et al.</td>
|
||
<td>2006</td>
|
||
<td>Blood</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/16618717"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">16618717</a>
|
||
</td>
|
||
<td class="fir_col">KRAS mutation status is predictive of response to cetuximab therapy in colorectal cancer.</td>
|
||
<td>Lièvre A et al.</td>
|
||
<td>2006</td>
|
||
<td>Cancer research</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/17332249"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">17332249</a>
|
||
</td>
|
||
<td class="fir_col">Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations.</td>
|
||
<td>Matsuda K et al.</td>
|
||
<td>2007</td>
|
||
<td>Blood</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/17384584"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">17384584</a>
|
||
</td>
|
||
<td class="fir_col">Hyperactive Ras in developmental disorders and cancer.</td>
|
||
<td>Schubbert S et al.</td>
|
||
<td>2007</td>
|
||
<td>Nature reviews. Cancer</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/18316791"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">18316791</a>
|
||
</td>
|
||
<td class="fir_col">Wild-type KRAS is required for panitumumab efficacy in patients with metastatic colorectal cancer.</td>
|
||
<td>Amado RG et al.</td>
|
||
<td>2008</td>
|
||
<td>Journal of clinical oncology </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/18794081"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">18794081</a>
|
||
</td>
|
||
<td class="fir_col">Frequency and distinctive spectrum of KRAS mutations in never smokers with lung adenocarcinoma.</td>
|
||
<td>Riely GJ et al.</td>
|
||
<td>2008</td>
|
||
<td>Clinical cancer research </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/19018267"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">19018267</a>
|
||
</td>
|
||
<td class="fir_col">KRAS or BRAF mutation status is a useful predictor of sensitivity to MEK inhibition in ovarian cancer.</td>
|
||
<td>Nakayama N et al.</td>
|
||
<td>2008</td>
|
||
<td>British journal of cancer</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/19075190"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">19075190</a>
|
||
</td>
|
||
<td class="fir_col">High-throughput sequencing screen reveals novel, transforming RAS mutations in myeloid leukemia patients.</td>
|
||
<td>Tyner JW et al.</td>
|
||
<td>2009</td>
|
||
<td>Blood</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/19114683"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">19114683</a>
|
||
</td>
|
||
<td class="fir_col">Fluorouracil, leucovorin, and oxaliplatin with and without cetuximab in the first-line treatment of metastatic colorectal cancer.</td>
|
||
<td>Bokemeyer C et al.</td>
|
||
<td>2009</td>
|
||
<td>Journal of clinical oncology </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/19255327"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">19255327</a>
|
||
</td>
|
||
<td class="fir_col">Phase II trial of sorafenib in metastatic thyroid cancer.</td>
|
||
<td>Kloos RT et al.</td>
|
||
<td>2009</td>
|
||
<td>Journal of clinical oncology </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/19679400"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">19679400</a>
|
||
</td>
|
||
<td class="fir_col">Frequency and type of KRAS mutations in routine diagnostic analysis of metastatic colorectal cancer.</td>
|
||
<td>Neumann J et al.</td>
|
||
<td>2009</td>
|
||
<td>Pathology, research and practice</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/19773371"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">19773371</a>
|
||
</td>
|
||
<td class="fir_col">Beneficial effects of sorafenib on tumor progression, but not on radioiodine uptake, in patients with differentiated thyroid carcinoma.</td>
|
||
<td>Hoftijzer H et al.</td>
|
||
<td>2009</td>
|
||
<td>European journal of endocrinology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/19794967"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">19794967</a>
|
||
</td>
|
||
<td class="fir_col">Clinical implications of KRAS mutations in lung cancer patients treated with tyrosine kinase inhibitors: an important role for mutations in minor clones.</td>
|
||
<td>Marchetti A et al.</td>
|
||
<td>2009</td>
|
||
<td>Neoplasia (New York, N.Y.)</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/20921462"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">20921462</a>
|
||
</td>
|
||
<td class="fir_col">Randomized phase III study of panitumumab with fluorouracil, leucovorin, and irinotecan (FOLFIRI) compared with FOLFIRI alone as second-line treatment in patients with metastatic colorectal cancer.</td>
|
||
<td>Peeters M et al.</td>
|
||
<td>2010</td>
|
||
<td>Journal of clinical oncology </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/20921465"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">20921465</a>
|
||
</td>
|
||
<td class="fir_col">Randomized, phase III trial of panitumumab with infusional fluorouracil, leucovorin, and oxaliplatin (FOLFOX4) versus FOLFOX4 alone as first-line treatment in patients with previously untreated metastatic colorectal cancer: the PRIME study.</td>
|
||
<td>Douillard JY et al.</td>
|
||
<td>2010</td>
|
||
<td>Journal of clinical oncology </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/21063026"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">21063026</a>
|
||
</td>
|
||
<td class="fir_col">Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation.</td>
|
||
<td>Takagi M et al.</td>
|
||
<td>2011</td>
|
||
<td>Blood</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/21228335"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">21228335</a>
|
||
</td>
|
||
<td class="fir_col">Efficacy according to biomarker status of cetuximab plus FOLFOX-4 as first-line treatment for metastatic colorectal cancer: the OPUS study.</td>
|
||
<td>Bokemeyer C et al.</td>
|
||
<td>2011</td>
|
||
<td>Annals of oncology </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/21398618"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">21398618</a>
|
||
</td>
|
||
<td class="fir_col">Effect of simvastatin on cetuximab resistance in human colorectal cancer with KRAS mutations.</td>
|
||
<td>Lee J et al.</td>
|
||
<td>2011</td>
|
||
<td>Journal of the National Cancer Institute</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/21975775"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">21975775</a>
|
||
</td>
|
||
<td class="fir_col">Epidermal growth factor receptor blockers for the treatment of ovarian cancer.</td>
|
||
<td>Haldar K et al.</td>
|
||
<td>2011</td>
|
||
<td>The Cochrane database of systematic reviews</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/22392911"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">22392911</a>
|
||
</td>
|
||
<td class="fir_col">Inhibition of MEK and PI3K/mTOR suppresses tumor growth but does not cause tumor regression in patient-derived xenografts of RAS-mutant colorectal carcinomas.</td>
|
||
<td>Migliardi G et al.</td>
|
||
<td>2012</td>
|
||
<td>Clinical cancer research </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/22407852"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">22407852</a>
|
||
</td>
|
||
<td class="fir_col">RAS mutations are frequent in FAB type M4 and M5 of acute myeloid leukemia, and related to late relapse: a study of the Japanese Childhood AML Cooperative Study Group.</td>
|
||
<td>Sano H et al.</td>
|
||
<td>2012</td>
|
||
<td>International journal of hematology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/22734028"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">22734028</a>
|
||
</td>
|
||
<td class="fir_col">Association of KRAS G13D tumor mutations with outcome in patients with metastatic colorectal cancer treated with first-line chemotherapy with or without cetuximab.</td>
|
||
<td>Tejpar S et al.</td>
|
||
<td>2012</td>
|
||
<td>Journal of clinical oncology </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/22992668"
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ref="section=Publications&action=Click-on&label=PMID_link"
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data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">22992668</a>
|
||
</td>
|
||
<td class="fir_col">Pharmacogenomics knowledge for personalized medicine.</td>
|
||
<td>Whirl-Carrillo M et al.</td>
|
||
<td>2012</td>
|
||
<td>Clinical pharmacology and therapeutics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/23071293"
|
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ref="section=Publications&action=Click-on&label=PMID_link"
|
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data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">23071293</a>
|
||
</td>
|
||
<td class="fir_col">Clinical outcome of Japanese metastatic colorectal cancer patients harbouring the KRAS p.G13D mutation treated with cetuximab + irinotecan.</td>
|
||
<td>Bando H et al.</td>
|
||
<td>2012</td>
|
||
<td>Japanese journal of clinical oncology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/23090619"
|
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ref="section=Publications&action=Click-on&label=PMID_link"
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data-section="Publications" data-ga-action="Click-on"
|
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data-ga-label="PMID_link">23090619</a>
|
||
</td>
|
||
<td class="fir_col">Association between KRAS codon 13 mutations and clinical response to anti-EGFR treatment in patients with metastatic colorectal cancer: results from a meta-analysis.</td>
|
||
<td>Chen J et al.</td>
|
||
<td>2013</td>
|
||
<td>Cancer chemotherapy and pharmacology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/23182985"
|
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ref="section=Publications&action=Click-on&label=PMID_link"
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data-section="Publications" data-ga-action="Click-on"
|
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data-ga-label="PMID_link">23182985</a>
|
||
</td>
|
||
<td class="fir_col">Mutant KRAS codon 12 and 13 alleles in patients with metastatic colorectal cancer: assessment as prognostic and predictive biomarkers of response to panitumumab.</td>
|
||
<td>Peeters M et al.</td>
|
||
<td>2013</td>
|
||
<td>Journal of clinical oncology </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/23406027"
|
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ref="section=Publications&action=Click-on&label=PMID_link"
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data-section="Publications" data-ga-action="Click-on"
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data-ga-label="PMID_link">23406027</a>
|
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</td>
|
||
<td class="fir_col">Selumetinib-enhanced radioiodine uptake in advanced thyroid cancer.</td>
|
||
<td>Ho AL et al.</td>
|
||
<td>2013</td>
|
||
<td>The New England journal of medicine</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/24033266"
|
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ref="section=Publications&action=Click-on&label=PMID_link"
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data-section="Publications" data-ga-action="Click-on"
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data-ga-label="PMID_link">24033266</a>
|
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</td>
|
||
<td class="fir_col">A systematic approach to assessing the clinical significance of genetic variants.</td>
|
||
<td>Duzkale H et al.</td>
|
||
<td>2013</td>
|
||
<td>Clinical genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/24558511"
|
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ref="section=Publications&action=Click-on&label=PMID_link"
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data-section="Publications" data-ga-action="Click-on"
|
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data-ga-label="PMID_link">24558511</a>
|
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</td>
|
||
<td class="fir_col">KRAS G13D Mutation and Sensitivity to Cetuximab or Panitumumab in a Colorectal Cancer Cell Line Model.</td>
|
||
<td>Kumar SS et al.</td>
|
||
<td>2014</td>
|
||
<td>Gastrointestinal cancer research </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/24628546"
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ref="section=Publications&action=Click-on&label=PMID_link"
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data-section="Publications" data-ga-action="Click-on"
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data-ga-label="PMID_link">24628546</a>
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</td>
|
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<td class="fir_col">Development and characterization of a differentiated thyroid cancer cell line resistant to VEGFR-targeted kinase inhibitors.</td>
|
||
<td>Isham CR et al.</td>
|
||
<td>2014</td>
|
||
<td>The Journal of clinical endocrinology and metabolism</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/25157968"
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ref="section=Publications&action=Click-on&label=PMID_link"
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data-section="Publications" data-ga-action="Click-on"
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data-ga-label="PMID_link">25157968</a>
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</td>
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<td class="fir_col">Prospective enterprise-level molecular genotyping of a cohort of cancer patients.</td>
|
||
<td>MacConaill LE et al.</td>
|
||
<td>2014</td>
|
||
<td>The Journal of molecular diagnostics </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/25808193"
|
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ref="section=Publications&action=Click-on&label=PMID_link"
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data-section="Publications" data-ga-action="Click-on"
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data-ga-label="PMID_link">25808193</a>
|
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</td>
|
||
<td class="fir_col">Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations.</td>
|
||
<td>Peacock JD et al.</td>
|
||
<td>2015</td>
|
||
<td>American journal of medical genetics. Part A</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/26371285"
|
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ref="section=Publications&action=Click-on&label=PMID_link"
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data-section="Publications" data-ga-action="Click-on"
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data-ga-label="PMID_link">26371285</a>
|
||
</td>
|
||
<td class="fir_col">Phase II study of single-agent cetuximab in KRAS G13D mutant metastatic colorectal cancer.</td>
|
||
<td>Schirripa M et al.</td>
|
||
<td>2015</td>
|
||
<td>Annals of oncology </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/26623049"
|
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ref="section=Publications&action=Click-on&label=PMID_link"
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data-section="Publications" data-ga-action="Click-on"
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data-ga-label="PMID_link">26623049</a>
|
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</td>
|
||
<td class="fir_col">Cetuximab treatment for metastatic colorectal cancer with KRAS p.G13D mutations improves progression-free survival.</td>
|
||
<td>Osumi H et al.</td>
|
||
<td>2015</td>
|
||
<td>Molecular and clinical oncology</td>
|
||
</tr>
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
</div>
|
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<a ref="section=Publications&action=Click-on&label=View_All_link" target="_blank"
|
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href="/pubmed?term=2278970,3122217,3627975,12460918,15696205,16361624,16434492,16618717,17332249,17384584,18316791,18794081,19018267,19075190,19114683,19255327,19679400,19773371,19794967,20921462,20921465,21063026,21228335,21398618,21975775,22392911,22407852,22734028,22992668,23071293,23090619,23182985,23406027,24033266,24558511,24628546,25157968,25808193,26371285,26623049"
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<div id="flanks" class="js-tabcontent">
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<a data-width="640px" href="#flanks_tp"
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<p id="flanks_tp">The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.</p>
|
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<div id="flanks_container">
|
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<div id="context_container">
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<span class="sect_heading">
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Genome context:
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</span>
|
||
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||
<select id="flank_context">
|
||
|
||
<option value="option1"
|
||
selected="selected"
|
||
seq_acc_ver="NC_000012.12" position="25245347"
|
||
assmacc="GCF_000001405.40" ref_allele="C"
|
||
variant_type="snv">
|
||
|
||
GRCh38.p14 ( NC_000012.12 )
|
||
|
||
</option>
|
||
|
||
<option value="option2"
|
||
|
||
seq_acc_ver="NC_000012.11" position="25398281"
|
||
assmacc="GCF_000001405.25" ref_allele="C"
|
||
variant_type="snv">
|
||
|
||
GRCh37.p13 ( NC_000012.11 )
|
||
|
||
</option>
|
||
|
||
<option value="option3"
|
||
|
||
seq_acc_ver="NG_007524.2" position="10657"
|
||
assmacc="" ref_allele="C"
|
||
variant_type="snv">
|
||
|
||
NG_007524.2
|
||
|
||
</option>
|
||
|
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</select>
|
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</div>
|
||
|
||
|
||
<span class="sect_heading">
|
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Select flank length:
|
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</span>
|
||
<select id="flank_length">
|
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|
||
|
||
<option value="25"
|
||
selected="selected">
|
||
25 nt</option>
|
||
|
||
<option value="50"
|
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>
|
||
50 nt</option>
|
||
|
||
<option value="100"
|
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>
|
||
100 nt</option>
|
||
|
||
<option value="200"
|
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>
|
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200 nt</option>
|
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|
||
|
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</select>
|
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<button id="retrieve_flank" class="usa-button-outline" type="button">Retrieve</button>
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<div id="flanking_sequence">
|
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</div>
|
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</div>
|
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|
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|
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</div>
|
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</div>
|
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<div class="usa-row">
|
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<h3 id="seq_hash" class="green-heading">Genomic regions, transcripts, and products
|
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<div>
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<span><a href="#top" ref="section=Sequence Viewer&action=Click-on&label=Top_link"
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|
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</a>
|
||
<p id="sequence_viewer_tp">
|
||
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).<br/>
|
||
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.<br/>
|
||
Visit <a class="external-link" href="/tools/sviewer/" target="_blank">Sequence Viewer</a> for help with navigating inside the display and modifying the selection of displayed data tracks.</p>
|
||
|
||
</div>
|
||
</h3>
|
||
<div id="sequence">
|
||
|
||
<div id="seq_div" class="usa-width-one-whole">
|
||
<label for="seq_sel">Choose placement</label>
|
||
<select id="seq_sel">
|
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|
||
<option value="option1"
|
||
selected="selected"
|
||
data-svparams="id=NC_000012.12&assm_context=GCF_000001405.40&v=25245297.0:25245397.0&mk=25245347|rs112445441!&theme=SNP_ref"
|
||
data-assmacc="GCF_000001405.40" data-rsid="112445441">
|
||
|
||
GRCh38.p14 ( NC_000012.12 )
|
||
|
||
</option>
|
||
|
||
<option value="option2"
|
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|
||
data-svparams="id=NC_000012.11&assm_context=GCF_000001405.25&v=25398231.0:25398331.0&mk=25398281|rs112445441!&theme=SNP_ref"
|
||
data-assmacc="GCF_000001405.25" data-rsid="112445441">
|
||
|
||
GRCh37.p13 ( NC_000012.11 )
|
||
|
||
</option>
|
||
|
||
<option value="option3"
|
||
|
||
data-svparams="id=NG_007524.2&assm_context=&v=10607.0:10707.0&mk=10657|rs112445441!&theme=SNP_ref"
|
||
data-assmacc="" data-rsid="112445441">
|
||
|
||
NG_007524.2
|
||
|
||
</option>
|
||
|
||
</select>
|
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<div class="align-right">
|
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<a href="#"
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ref="section=Sequence Viewer&action=Click-on&label=See_rs_in_Variation_Viewer_link"
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<button title="see rs112445441 and neighboring variants in Variation Viewer"
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class="usa-button-outline" id="variation_viewer_btn" type="button">See rs112445441
|
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in Variation Viewer
|
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</button>
|
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</a>
|
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</div>
|
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</div>
|
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<div class="usa-width-one-whole">
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<div id="sv1" class="SeqViewerApp align-right">
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<a href="?embedded=true&app_context=Variation_Viewer_2-1&id=NC_000012.12"
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