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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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href="/snp/">dbSNP</a>
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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/267606617"
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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/>
|
||
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">rs267606617</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
|
||
|
||
</span></p>
|
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</div>
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</div>
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||
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<div class="summary-box usa-grid-full">
|
||
<dl class="usa-width-one-half">
|
||
|
||
<dt>Organism</dt>
|
||
<dd class="species_name">Homo sapiens</dd>
|
||
|
||
|
||
|
||
|
||
<dt>Position</dt>
|
||
<dd>
|
||
|
||
<span>chrMT:1555 </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>
|
||
|
||
|
||
A>G
|
||
|
||
</dd>
|
||
|
||
|
||
|
||
|
||
<dt>Variation Type</dt>
|
||
<dd>
|
||
|
||
SNV
|
||
|
||
|
||
|
||
<span class="small-font gray">Single Nucleotide Variation</span>
|
||
|
||
</dd>
|
||
|
||
|
||
|
||
<dt>Frequency</dt>
|
||
<dd>
|
||
|
||
<div>
|
||
G=0.00142
|
||
(55/38722, 38KJPN)
|
||
</div><div>
|
||
G=0.0007
|
||
(2/2922, KOREAN)
|
||
</div><span>
|
||
G=0.004 (2/534, MGP)
|
||
</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=((24667[AlleleID]))">ClinVar</a>
|
||
|
||
</dd>
|
||
|
||
|
||
|
||
<dt>Gene : Consequence</dt>
|
||
<dd>
|
||
|
||
<span>MT-ND1 : 2KB Upstream Variant</span>
|
||
|
||
</dd>
|
||
|
||
<dt>Publications</dt>
|
||
<dd>
|
||
|
||
<a id="snp_pub_count" href="#publications">76
|
||
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="#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/rs267606617/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/PRJNA678214">38KJPN</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN33574975">JAPANESE</a>
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">38722</td>
|
||
<td>A=0.99858</td>
|
||
<td>G=0.00142</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJNA589833">KOREAN population from KRGDB</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
KOREAN
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">2922</td>
|
||
<td>A=0.9993</td>
|
||
<td>G=0.0007</td>
|
||
</tr>
|
||
|
||
|
||
<tr class="par_row">
|
||
<td>
|
||
|
||
<a href="/bioproject/PRJEB8705">Medical Genome Project healthy controls from Spanish population</a>
|
||
|
||
</td>
|
||
<td>
|
||
|
||
<a href="/biosample/SAMN13001620">Spanish controls</a>
|
||
|
||
</td>
|
||
<td>Study-wide</td>
|
||
<td class="samp_s">534</td>
|
||
<td>A=0.996</td>
|
||
<td>G=0.004</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 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/4535">MT-ND1</a>, mitochondrially encoded NADH dehydrogenase 1
|
||
(plus strand)
|
||
:
|
||
2KB Upstream Variant
|
||
</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>MT</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
NC_012920.1:m.1555A>G
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
<span>
|
||
|
||
|
||
|
||
N/A
|
||
|
||
|
||
</span>
|
||
</td>
|
||
<td>
|
||
|
||
N/A
|
||
|
||
</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: G (allele ID:
|
||
<a ref="section=Clinical Significance&action=Click-on&label=allele_link"
|
||
target="_blank" href="/clinvar?term=(24667[AlleleID])"
|
||
data-section="Clinical Significance"
|
||
data-ga-action="Click-on"
|
||
data-ga-label="allele_link">
|
||
24667
|
||
</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/RCV000010254.17">RCV000010254.17</a>
|
||
</td>
|
||
<td>Aminoglycoside-induced deafness</td>
|
||
<td>Pathogenic,Drug-Response</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/RCV000010255.18">RCV000010255.18</a>
|
||
</td>
|
||
<td>Mitochondrial non-syndromic sensorineural hearing loss</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/RCV000010256.14">RCV000010256.14</a>
|
||
</td>
|
||
<td>Restrictive cardiomyopathy</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/RCV000224935.10">RCV000224935.10</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/RCV000505667.10">RCV000505667.10</a>
|
||
</td>
|
||
<td>Aminoglycoside-induced deafness,Mitochondrial non-syndromic sensorineural hearing loss</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/RCV000722074.10">RCV000722074.10</a>
|
||
</td>
|
||
<td>Gentamicin response</td>
|
||
<td>Drug-Response</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/RCV000844677.12">RCV000844677.12</a>
|
||
</td>
|
||
<td>Rare genetic deafness</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/RCV001787321.10">RCV001787321.10</a>
|
||
</td>
|
||
<td>aminoglycoside antibacterials response - Toxicity</td>
|
||
<td>Drug-Response</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/RCV001787374.10">RCV001787374.10</a>
|
||
</td>
|
||
<td>gentamicin response - Toxicity</td>
|
||
<td>Drug-Response</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/RCV001787375.10">RCV001787375.10</a>
|
||
</td>
|
||
<td>amikacin response - Toxicity</td>
|
||
<td>Drug-Response</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/RCV001787376.10">RCV001787376.10</a>
|
||
</td>
|
||
<td>kanamycin response - Toxicity</td>
|
||
<td>Drug-Response</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/RCV001787377.10">RCV001787377.10</a>
|
||
</td>
|
||
<td>streptomycin response - Toxicity</td>
|
||
<td>Drug-Response</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/RCV001787378.10">RCV001787378.10</a>
|
||
</td>
|
||
<td>tobramycin response - Toxicity</td>
|
||
<td>Drug-Response</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/RCV003153300.8">RCV003153300.8</a>
|
||
</td>
|
||
<td>Mitochondrial disease</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/RCV003445067.1">RCV003445067.1</a>
|
||
</td>
|
||
<td>Hearing loss, sensorineural, autosomal-mitochondrial type</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/RCV004554597.1">RCV004554597.1</a>
|
||
</td>
|
||
<td>Aminoglycoside induced ototoxicity</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>
|
||
A=
|
||
</th>
|
||
|
||
<th>
|
||
G
|
||
</th>
|
||
|
||
</tr>
|
||
</thead>
|
||
<tbody class="allele_wrap">
|
||
|
||
|
||
<tr>
|
||
<td class="alias_hgvs">
|
||
|
||
MT
|
||
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_012920.1:m.1555=
|
||
</td>
|
||
|
||
<td class="alias_hgvs">
|
||
NC_012920.1:m.1555A>G
|
||
</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">
|
||
|
||
13 SubSNP,
|
||
|
||
3 Frequency,
|
||
|
||
16 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>
|
||
|
||
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=ss537712855">ss537712855</a>
|
||
|
||
</td>
|
||
<td>Jul 19, 2012
|
||
(137)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>2</td>
|
||
<td>
|
||
|
||
EVA_MGP
|
||
|
||
</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=ss1711594553">ss1711594553</a>
|
||
|
||
</td>
|
||
<td>Jul 19, 2016
|
||
(147)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>3</td>
|
||
<td>
|
||
|
||
AFFY
|
||
|
||
</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=ss2986125487">ss2986125487</a>
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>4</td>
|
||
<td>
|
||
|
||
SWEGEN
|
||
|
||
</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=ss3020998456">ss3020998456</a>
|
||
|
||
</td>
|
||
<td>Oct 12, 2018
|
||
(152)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>5</td>
|
||
<td>
|
||
|
||
KRGDB
|
||
|
||
</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=ss3892820526">ss3892820526</a>
|
||
|
||
</td>
|
||
<td>Apr 27, 2020
|
||
(154)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>6</td>
|
||
<td>
|
||
|
||
TOMMO_GENOMICS
|
||
|
||
</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=ss6205737268">ss6205737268</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>7</td>
|
||
<td>
|
||
|
||
TOMMO_GENOMICS
|
||
|
||
</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=ss8236850227">ss8236850227</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>8</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=ss8237630393">ss8237630393</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>9</td>
|
||
<td>
|
||
|
||
TOMMO_GENOMICS
|
||
|
||
</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=ss8799397932">ss8799397932</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>10</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=ss8799405179">ss8799405179</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>11</td>
|
||
<td>
|
||
|
||
YY_MCH
|
||
|
||
</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=ss8819539972">ss8819539972</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 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=ss8848225711">ss8848225711</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 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=ss8979910602">ss8979910602</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>14</td>
|
||
<td>
|
||
|
||
KOREAN population from KRGDB
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_001807.4 - 1557
|
||
|
||
</td>
|
||
<td>Apr 27, 2020
|
||
(154)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>15</td>
|
||
<td>
|
||
|
||
Medical Genome Project healthy controls from Spanish population
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_012920.1 - 1555
|
||
|
||
</td>
|
||
<td>Apr 27, 2020
|
||
(154)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>16</td>
|
||
<td>
|
||
|
||
38KJPN
|
||
|
||
</td>
|
||
<td>
|
||
|
||
NC_012920.1 - 1555
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>17</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/RCV000010254.17/">RCV000010254.17</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</td>
|
||
</tr>
|
||
|
||
<tr >
|
||
<td>18</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/RCV000010255.18/">RCV000010255.18</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 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/RCV000010256.14/">RCV000010256.14</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 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/RCV000224935.10/">RCV000224935.10</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 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/RCV000505667.10/">RCV000505667.10</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 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/RCV000722074.10/">RCV000722074.10</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 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/RCV000844677.12/">RCV000844677.12</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 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/RCV001787321.10/">RCV001787321.10</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 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/RCV001787374.10/">RCV001787374.10</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 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/RCV001787375.10/">RCV001787375.10</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 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/RCV001787376.10/">RCV001787376.10</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</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/RCV001787377.10/">RCV001787377.10</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 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/RCV001787378.10/">RCV001787378.10</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 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/RCV003153300.8/">RCV003153300.8</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 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/RCV003445067.1/">RCV003445067.1</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 2024
|
||
(157)
|
||
</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/RCV004554597.1/">RCV004554597.1</a>
|
||
|
||
</td>
|
||
<td>Nov 02, 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>
|
||
|
||
50799576,
|
||
|
||
ss3892820526
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_001807.4:1556:A:G
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_012920.1:1554:A:G
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
(self)
|
||
|
||
|
||
</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td>
|
||
|
||
RCV000010254.17,
|
||
|
||
RCV000010255.18,
|
||
|
||
RCV000010256.14,
|
||
|
||
RCV000224935.10,
|
||
|
||
RCV000505667.10,
|
||
|
||
RCV000722074.10,
|
||
|
||
RCV000844677.12,
|
||
|
||
RCV001787321.10,
|
||
|
||
RCV001787374.10,
|
||
|
||
RCV001787375.10,
|
||
|
||
RCV001787376.10,
|
||
|
||
RCV001787377.10,
|
||
|
||
RCV001787378.10,
|
||
|
||
RCV003153300.8,
|
||
|
||
RCV003445067.1,
|
||
|
||
RCV004554597.1,
|
||
|
||
710313,
|
||
|
||
223113088,
|
||
|
||
ss537712855,
|
||
|
||
ss1711594553,
|
||
|
||
ss2986125487,
|
||
|
||
ss3020998456,
|
||
|
||
ss6205737268,
|
||
|
||
ss8236850227,
|
||
|
||
ss8237630393,
|
||
|
||
ss8799397932,
|
||
|
||
ss8799405179,
|
||
|
||
ss8819539972,
|
||
|
||
ss8848225711,
|
||
|
||
ss8979910602
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_012920.1:1554:A:G
|
||
|
||
|
||
</td>
|
||
<td>
|
||
|
||
|
||
NC_012920.1:1554:A:G
|
||
|
||
|
||
</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">
|
||
76
|
||
citations for rs267606617
|
||
</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/7689389"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">7689389</a>
|
||
</td>
|
||
<td class="fir_col">Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness.</td>
|
||
<td>Prezant TR et al.</td>
|
||
<td>1993</td>
|
||
<td>Nature genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/8285309"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">8285309</a>
|
||
</td>
|
||
<td class="fir_col">Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity.</td>
|
||
<td>Fischel-Ghodsian N et al.</td>
|
||
<td>1993</td>
|
||
<td>American journal of otolaryngology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/8414970"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">8414970</a>
|
||
</td>
|
||
<td class="fir_col">A molecular basis for human hypersensitivity to aminoglycoside antibiotics.</td>
|
||
<td>Hutchin T et al.</td>
|
||
<td>1993</td>
|
||
<td>Nucleic acids research</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/9039999"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">9039999</a>
|
||
</td>
|
||
<td class="fir_col">Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity.</td>
|
||
<td>Pandya A et al.</td>
|
||
<td>1997</td>
|
||
<td>Journal of medical genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/9111378"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">9111378</a>
|
||
</td>
|
||
<td class="fir_col">Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation.</td>
|
||
<td>Usami S et al.</td>
|
||
<td>1997</td>
|
||
<td>The Laryngoscope</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/9164619"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">9164619</a>
|
||
</td>
|
||
<td class="fir_col">Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicity.</td>
|
||
<td>Fischel-Ghodsian N et al.</td>
|
||
<td>1997</td>
|
||
<td>American journal of otolaryngology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/9391883"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">9391883</a>
|
||
</td>
|
||
<td class="fir_col">Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder.</td>
|
||
<td>Gardner JC et al.</td>
|
||
<td>1997</td>
|
||
<td>Journal of medical genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/9490575"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">9490575</a>
|
||
</td>
|
||
<td class="fir_col">Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides.</td>
|
||
<td>Estivill X et al.</td>
|
||
<td>1998</td>
|
||
<td>American journal of human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/9779807"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">9779807</a>
|
||
</td>
|
||
<td class="fir_col">Hearing loss due to the mitochondrial A1555G mutation in Italian families.</td>
|
||
<td>Casano RA et al.</td>
|
||
<td>1998</td>
|
||
<td>American journal of medical genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/9831149"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">9831149</a>
|
||
</td>
|
||
<td class="fir_col">Cochlear implantation in a patient with profound hearing loss with the A1555G mitochondrial mutation.</td>
|
||
<td>Tono T et al.</td>
|
||
<td>1998</td>
|
||
<td>The American journal of otology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/9887373"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">9887373</a>
|
||
</td>
|
||
<td class="fir_col">Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation.</td>
|
||
<td>Abe S et al.</td>
|
||
<td>1998</td>
|
||
<td>European journal of human genetics </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/9915970"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">9915970</a>
|
||
</td>
|
||
<td class="fir_col">Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation.</td>
|
||
<td>Santorelli FM et al.</td>
|
||
<td>1999</td>
|
||
<td>American journal of human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/9950117"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">9950117</a>
|
||
</td>
|
||
<td class="fir_col">Aminoglycoside-induced deafness associated with the mitochondrial DNA mutation A1555G.</td>
|
||
<td>Shohat M et al.</td>
|
||
<td>1999</td>
|
||
<td>American journal of otolaryngology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/10521300"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">10521300</a>
|
||
</td>
|
||
<td class="fir_col">The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness.</td>
|
||
<td>Torroni A et al.</td>
|
||
<td>1999</td>
|
||
<td>American journal of human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/10577941"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">10577941</a>
|
||
</td>
|
||
<td class="fir_col">Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia.</td>
|
||
<td>Pandya A et al.</td>
|
||
<td>1999</td>
|
||
<td>American journal of human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/10633132"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">10633132</a>
|
||
</td>
|
||
<td class="fir_col">Prevalence of mitochondrial gene mutations among hearing impaired patients.</td>
|
||
<td>Usami S et al.</td>
|
||
<td>2000</td>
|
||
<td>Journal of medical genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/10788333"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">10788333</a>
|
||
</td>
|
||
<td class="fir_col">Candidate locus for a nuclear modifier gene for maternally inherited deafness.</td>
|
||
<td>Bykhovskaya Y et al.</td>
|
||
<td>2000</td>
|
||
<td>American journal of human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/10915767"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">10915767</a>
|
||
</td>
|
||
<td class="fir_col">A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity.</td>
|
||
<td>Guan MX et al.</td>
|
||
<td>2000</td>
|
||
<td>Human molecular genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/11174059"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">11174059</a>
|
||
</td>
|
||
<td class="fir_col">Different clinical characteristics of aminoglycoside-induced profound deafness with and without the 1555 A-->G mitochondrial mutation.</td>
|
||
<td>Tono T et al.</td>
|
||
<td>2001</td>
|
||
<td>ORL; journal for oto-rhino-laryngology and its related specialties</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/11388757"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">11388757</a>
|
||
</td>
|
||
<td class="fir_col">Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness.</td>
|
||
<td>Bykhovskaya Y et al.</td>
|
||
<td>2001</td>
|
||
<td>Genetics in medicine </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/11857751"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">11857751</a>
|
||
</td>
|
||
<td class="fir_col">Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients.</td>
|
||
<td>Kupka S et al.</td>
|
||
<td>2002</td>
|
||
<td>Human mutation</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/12031626"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">12031626</a>
|
||
</td>
|
||
<td class="fir_col">Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA gene.</td>
|
||
<td>Yamasoba T et al.</td>
|
||
<td>2002</td>
|
||
<td>Neuromuscular disorders </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/12372057"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">12372057</a>
|
||
</td>
|
||
<td class="fir_col">The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs.</td>
|
||
<td>ØStergaard E et al.</td>
|
||
<td>2002</td>
|
||
<td>Clinical genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/12624722"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">12624722</a>
|
||
</td>
|
||
<td class="fir_col">Nonsyndromic sensorineural deafness associated with the A1555G mutation in the mitochondrial small subunit ribosomal RNA in a Balinese family.</td>
|
||
<td>Malik S et al.</td>
|
||
<td>2003</td>
|
||
<td>Journal of human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/12655418"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">12655418</a>
|
||
</td>
|
||
<td class="fir_col">Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey.</td>
|
||
<td>Tekin M et al.</td>
|
||
<td>2003</td>
|
||
<td>European journal of pediatrics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/12920080"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">12920080</a>
|
||
</td>
|
||
<td class="fir_col">Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.</td>
|
||
<td>del Castillo FJ et al.</td>
|
||
<td>2003</td>
|
||
<td>Journal of medical genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/12939650"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">12939650</a>
|
||
</td>
|
||
<td class="fir_col">Lack of a modulative factor in locus 8p23 in a Finnish family with nonsyndromic sensorineural hearing loss associated with the 1555A>G mitochondrial DNA mutation.</td>
|
||
<td>Finnilä S et al.</td>
|
||
<td>2003</td>
|
||
<td>European journal of human genetics </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/12955586"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">12955586</a>
|
||
</td>
|
||
<td class="fir_col">Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia.</td>
|
||
<td>Malik SG et al.</td>
|
||
<td>2003</td>
|
||
<td>Journal of human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/14699607"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">14699607</a>
|
||
</td>
|
||
<td class="fir_col">Cosegregation of C-insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss.</td>
|
||
<td>Li R et al.</td>
|
||
<td>2004</td>
|
||
<td>American journal of medical genetics. Part A</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/14755216"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">14755216</a>
|
||
</td>
|
||
<td class="fir_col">Audiovestibular findings in patients with mitochondrial A1555G mutation.</td>
|
||
<td>Noguchi Y et al.</td>
|
||
<td>2004</td>
|
||
<td>The Laryngoscope</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/15708009"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">15708009</a>
|
||
</td>
|
||
<td class="fir_col">Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation.</td>
|
||
<td>Young WY et al.</td>
|
||
<td>2005</td>
|
||
<td>Biochemical and biophysical research communications</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/15841390"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">15841390</a>
|
||
</td>
|
||
<td class="fir_col">Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss.</td>
|
||
<td>Li Z et al.</td>
|
||
<td>2005</td>
|
||
<td>Human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/15917167"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">15917167</a>
|
||
</td>
|
||
<td class="fir_col">Genetic features, clinical phenotypes, and prevalence of sensorineural hearing loss associated with the 961delT mitochondrial mutation.</td>
|
||
<td>Kobayashi K et al.</td>
|
||
<td>2005</td>
|
||
<td>Auris, nasus, larynx</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/16152638"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">16152638</a>
|
||
</td>
|
||
<td class="fir_col">Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss.</td>
|
||
<td>Yuan H et al.</td>
|
||
<td>2005</td>
|
||
<td>American journal of medical genetics. Part A</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/16168391"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">16168391</a>
|
||
</td>
|
||
<td class="fir_col">Clinical evaluation and mitochondrial DNA sequence analysis in two Chinese families with aminoglycoside-induced and non-syndromic hearing loss.</td>
|
||
<td>Zhao L et al.</td>
|
||
<td>2005</td>
|
||
<td>Biochemical and biophysical research communications</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/16375862"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">16375862</a>
|
||
</td>
|
||
<td class="fir_col">Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness.</td>
|
||
<td>Dai P et al.</td>
|
||
<td>2006</td>
|
||
<td>Biochemical and biophysical research communications</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/16458854"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">16458854</a>
|
||
</td>
|
||
<td class="fir_col">Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment.</td>
|
||
<td>Ballana E et al.</td>
|
||
<td>2006</td>
|
||
<td>Biochemical and biophysical research communications</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/16631122"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">16631122</a>
|
||
</td>
|
||
<td class="fir_col">Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene.</td>
|
||
<td>Bravo O et al.</td>
|
||
<td>2006</td>
|
||
<td>Biochemical and biophysical research communications</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/16826519"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">16826519</a>
|
||
</td>
|
||
<td class="fir_col">Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.</td>
|
||
<td>Guan MX et al.</td>
|
||
<td>2006</td>
|
||
<td>American journal of human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/16955413"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">16955413</a>
|
||
</td>
|
||
<td class="fir_col">Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss.</td>
|
||
<td>Young WY et al.</td>
|
||
<td>2006</td>
|
||
<td>American journal of medical genetics. Part A</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/17341440"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">17341440</a>
|
||
</td>
|
||
<td class="fir_col">Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation.</td>
|
||
<td>Tang X et al.</td>
|
||
<td>2007</td>
|
||
<td>Gene</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/17637808"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">17637808</a>
|
||
</td>
|
||
<td class="fir_col">Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.</td>
|
||
<td>Lévêque M et al.</td>
|
||
<td>2007</td>
|
||
<td>European journal of human genetics </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/17999439"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">17999439</a>
|
||
</td>
|
||
<td class="fir_col">Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations.</td>
|
||
<td>Ballana E et al.</td>
|
||
<td>2008</td>
|
||
<td>Human mutation</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/18790089"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">18790089</a>
|
||
</td>
|
||
<td class="fir_col">Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients.</td>
|
||
<td>Konings A et al.</td>
|
||
<td>2008</td>
|
||
<td>Mitochondrion</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/18820594"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">18820594</a>
|
||
</td>
|
||
<td class="fir_col">Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.</td>
|
||
<td>Wang X et al.</td>
|
||
<td>2008</td>
|
||
<td>Pharmacogenetics and genomics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/18830133"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">18830133</a>
|
||
</td>
|
||
<td class="fir_col">Frequency of mitochondrial 12S ribosomal RNA variants in an adult cystic fibrosis population.</td>
|
||
<td>Conrad DJ et al.</td>
|
||
<td>2008</td>
|
||
<td>Pharmacogenetics and genomics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/18983818"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">18983818</a>
|
||
</td>
|
||
<td class="fir_col">Co-segregation of the T1095C with the A1555G mutation of the mitochondrial 12S rRNA gene in a patient with non-syndromic hearing loss.</td>
|
||
<td>Dai D et al.</td>
|
||
<td>2008</td>
|
||
<td>Biochemical and biophysical research communications</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/19196684"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">19196684</a>
|
||
</td>
|
||
<td class="fir_col">Prevalence of mitochondrial 1555A-->G mutation in European children.</td>
|
||
<td>Bitner-Glindzicz M et al.</td>
|
||
<td>2009</td>
|
||
<td>The New England journal of medicine</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/19376484"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">19376484</a>
|
||
</td>
|
||
<td class="fir_col">Mitochondrial tRNA(Glu) A14693G variant may modulate the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in a Han Chinese family.</td>
|
||
<td>Ding Y et al.</td>
|
||
<td>2009</td>
|
||
<td>Journal of genetics and genomics = Yi chuan xue bao</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/19475720"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">19475720</a>
|
||
</td>
|
||
<td class="fir_col">Factors that affect hearing level in individuals with the mitochondrial 1555A.G mutation.</td>
|
||
<td>Lu SY et al.</td>
|
||
<td>2009</td>
|
||
<td>Clinical genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/19818876"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">19818876</a>
|
||
</td>
|
||
<td class="fir_col">Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation.</td>
|
||
<td>Lu J et al.</td>
|
||
<td>2010</td>
|
||
<td>Mitochondrion</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/20100600"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">20100600</a>
|
||
</td>
|
||
<td class="fir_col">Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss.</td>
|
||
<td>Lu J et al.</td>
|
||
<td>2010</td>
|
||
<td>Mitochondrion</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/20111055"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">20111055</a>
|
||
</td>
|
||
<td class="fir_col">Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss.</td>
|
||
<td>Kato T et al.</td>
|
||
<td>2010</td>
|
||
<td>Journal of human genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/20172897"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">20172897</a>
|
||
</td>
|
||
<td class="fir_col">Aminoglycoside-induced deafness during treatment of acute leukaemia.</td>
|
||
<td>Bitner-Glindzicz M et al.</td>
|
||
<td>2010</td>
|
||
<td>Archives of disease in childhood</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/20353758"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">20353758</a>
|
||
</td>
|
||
<td class="fir_col">Mutation analysis of mitochondrial 12S rRNA gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss.</td>
|
||
<td>Rydzanicz M et al.</td>
|
||
<td>2010</td>
|
||
<td>Biochemical and biophysical research communications</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/20416460"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">20416460</a>
|
||
</td>
|
||
<td class="fir_col">Genetic mutations and aminoglycoside-induced ototoxicity in neonates.</td>
|
||
<td>Johnson RF et al.</td>
|
||
<td>2010</td>
|
||
<td>Otolaryngology--head and neck surgery </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/21162657"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">21162657</a>
|
||
</td>
|
||
<td class="fir_col">Molecular epidemiological analysis of mitochondrial DNA12SrRNA A1555G, GJB2, and SLC26A4 mutations in sporadic outpatients with nonsyndromic sensorineural hearing loss in China.</td>
|
||
<td>Ji YB et al.</td>
|
||
<td>2011</td>
|
||
<td>Acta oto-laryngologica</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/21329993"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">21329993</a>
|
||
</td>
|
||
<td class="fir_col">Newborn hearing concurrent gene screening can improve care for hearing loss: a study on 14,913 Chinese newborns.</td>
|
||
<td>Wang QJ et al.</td>
|
||
<td>2011</td>
|
||
<td>International journal of pediatric otorhinolaryngology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/21495045"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">21495045</a>
|
||
</td>
|
||
<td class="fir_col">The prevalence of mitochondrial mutations associated with aminoglycoside-induced sensorineural hearing loss in an NICU population.</td>
|
||
<td>Ealy M et al.</td>
|
||
<td>2011</td>
|
||
<td>The Laryngoscope</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/21504270"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">21504270</a>
|
||
</td>
|
||
<td class="fir_col">Unique penetrance of hearing loss in a five-generation Chinese family with the mitochondrial 12S rRNA 1555A > G mutation.</td>
|
||
<td>Men M et al.</td>
|
||
<td>2011</td>
|
||
<td>Acta oto-laryngologica</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/21725156"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">21725156</a>
|
||
</td>
|
||
<td class="fir_col">Detection of deafness-causing mutations in the Greek mitochondrial genome.</td>
|
||
<td>Kokotas H et al.</td>
|
||
<td>2011</td>
|
||
<td>Disease markers</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/21777984"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">21777984</a>
|
||
</td>
|
||
<td class="fir_col">GJB2 and mitochondrial DNA 1555A>G mutations in students with hearing loss in the Hubei Province of China.</td>
|
||
<td>Chen G et al.</td>
|
||
<td>2011</td>
|
||
<td>International journal of pediatric otorhinolaryngology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/21811586"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">21811586</a>
|
||
</td>
|
||
<td class="fir_col">Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center.</td>
|
||
<td>Wu CC et al.</td>
|
||
<td>2011</td>
|
||
<td>PloS one</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/21828074"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">21828074</a>
|
||
</td>
|
||
<td class="fir_col">'Progress' renders detrimental an ancient mitochondrial DNA genetic variant.</td>
|
||
<td>Pacheu-Grau D et al.</td>
|
||
<td>2011</td>
|
||
<td>Human molecular genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/22223843"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">22223843</a>
|
||
</td>
|
||
<td class="fir_col">Hearing in 44-45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study.</td>
|
||
<td>Rahman S et al.</td>
|
||
<td>2012</td>
|
||
<td>BMJ open</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/22475488"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">22475488</a>
|
||
</td>
|
||
<td class="fir_col">Heteroplasmy levels of mtDNA1555A>G mutation is positively associated with diverse phenotypes and mutation transmission in a Chinese family.</td>
|
||
<td>Shen SS et al.</td>
|
||
<td>2012</td>
|
||
<td>Biochemical and biophysical research communications</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/22992668"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
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/23525847"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">23525847</a>
|
||
</td>
|
||
<td class="fir_col">The clinical and audiologic features of hearing loss due to mitochondrial mutations.</td>
|
||
<td>Yelverton JC et al.</td>
|
||
<td>2013</td>
|
||
<td>Otolaryngology--head and neck surgery </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/24033266"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">24033266</a>
|
||
</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/24703164"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">24703164</a>
|
||
</td>
|
||
<td class="fir_col">Normal hearing in a child with the m.1555A>G mutation despite repeated exposure to aminoglycosides. Has the penetrance of this pharmacogenetic interaction been overestimated?</td>
|
||
<td>Al-Malky G et al.</td>
|
||
<td>2014</td>
|
||
<td>International journal of pediatric otorhinolaryngology</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/25155176"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">25155176</a>
|
||
</td>
|
||
<td class="fir_col">Mitochondrial mutation m.1555A>G as a risk factor for failed newborn hearing screening in a large cohort of preterm infants.</td>
|
||
<td>Göpel W et al.</td>
|
||
<td>2014</td>
|
||
<td>BMC pediatrics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/25515069"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">25515069</a>
|
||
</td>
|
||
<td class="fir_col">Mitochondrial mutations associated with aminoglycoside ototoxicity and hearing loss susceptibility identified by meta-analysis.</td>
|
||
<td>Jing W et al.</td>
|
||
<td>2015</td>
|
||
<td>Journal of medical genetics</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/25741868"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
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data-ga-label="PMID_link">25741868</a>
|
||
</td>
|
||
<td class="fir_col">Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.</td>
|
||
<td>Richards S et al.</td>
|
||
<td>2015</td>
|
||
<td>Genetics in medicine </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/25744662"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">25744662</a>
|
||
</td>
|
||
<td class="fir_col">Audio profiles in mitochondrial deafness m.1555A>G and m.3243A>G show distinct differences.</td>
|
||
<td>Iwanicka-Pronicka K et al.</td>
|
||
<td>2015</td>
|
||
<td>Medical science monitor </td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/27427311"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">27427311</a>
|
||
</td>
|
||
<td class="fir_col">Is deafness mutation screening required in cystic fibrosis patients?</td>
|
||
<td>Abusamra R et al.</td>
|
||
<td>2016</td>
|
||
<td>Paediatric respiratory reviews</td>
|
||
</tr>
|
||
|
||
<tr>
|
||
<td><a target="_blank" href="/pubmed/28049726"
|
||
ref="section=Publications&action=Click-on&label=PMID_link"
|
||
data-section="Publications" data-ga-action="Click-on"
|
||
data-ga-label="PMID_link">28049726</a>
|
||
</td>
|
||
<td class="fir_col">Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation.</td>
|
||
<td>Meng F et al.</td>
|
||
<td>2017</td>
|
||
<td>The Journal of biological chemistry</td>
|
||
</tr>
|
||
|
||
</tbody>
|
||
</table>
|
||
|
||
</div>
|
||
<a ref="section=Publications&action=Click-on&label=View_All_link" target="_blank"
|
||
href="/pubmed?term=7689389,8285309,8414970,9039999,9111378,9164619,9391883,9490575,9779807,9831149,9887373,9915970,9950117,10521300,10577941,10633132,10788333,10915767,11174059,11388757,11857751,12031626,12372057,12624722,12655418,12920080,12939650,12955586,14699607,14755216,15708009,15841390,15917167,16152638,16168391,16375862,16458854,16631122,16826519,16955413,17341440,17637808,17999439,18790089,18820594,18830133,18983818,19196684,19376484,19475720,19818876,20100600,20111055,20172897,20353758,20416460,21162657,21329993,21495045,21504270,21725156,21777984,21811586,21828074,22223843,22475488,22992668,23525847,24033266,24703164,25155176,25515069,25741868,25744662,27427311,28049726"
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<button class="usa-button-outline" type="button">View All in PubMed</button>
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</a>
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</div>
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|
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<div id="flanks" class="js-tabcontent">
|
||
<a data-width="640px" href="#flanks_tp"
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ref="section=Flanks&action=Click-on-Tooltip&label=flanks_tp"
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data-section="Flanks" data-ga-action="Click-on-Tooltip"
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data-ga-label="flanks_tp" class="fa fa-question-circle align-right ncbiPopper">
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<span class="usa-sr-only">Help</span>
|
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</a>
|
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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>
|
||
|
||
<p>No flank sequence available</p>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="usa-row">
|
||
<h3 id="seq_hash" class="green-heading">Genomic regions, transcripts, and products
|
||
<div>
|
||
<span><a href="#top" ref="section=Sequence Viewer&action=Click-on&label=Top_link"
|
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data-section="Sequence Viewer" data-ga-action="Click-on"
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data-ga-label="Top_link">Top</a></span><span>▲</span>
|
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<a data-width="640px" href="#sequence_viewer_tp"
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ref="section=Sequence Viewer&action=Click-on-Tooltip&label=sequence_viewer_tp"
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data-section="Sequence Viewer" data-ga-action="Click-on-Tooltip"
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data-ga-label="sequence_viewer_tp" class="fa fa-question-circle align-right ncbiPopper">
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<span class="usa-sr-only">Help</span>
|
||
</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">
|
||
|
||
<option value="option1"
|
||
selected="selected"
|
||
data-svparams="id=NC_012920.1&assm_context=GCF_000001405.25&v=1505.0:1605.0&mk=1555|rs267606617!&theme=SNP_ref"
|
||
data-assmacc="GCF_000001405.25" data-rsid="267606617">
|
||
|
||
GRCh37.p13 ( NC_012920.1 )
|
||
|
||
</option>
|
||
|
||
<option value="option2"
|
||
|
||
data-svparams="id=NC_012920.1&assm_context=GCF_000001405.40&v=1505.0:1605.0&mk=1555|rs267606617!&theme=SNP_ref"
|
||
data-assmacc="GCF_000001405.40" data-rsid="267606617">
|
||
|
||
GRCh38.p14 ( NC_012920.1 )
|
||
|
||
</option>
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