453 lines
61 KiB
XML
453 lines
61 KiB
XML
<?xml version="1.0" encoding="utf-8"?>
|
||
<!DOCTYPE html PUBLIC "-//W3C//DTD XHTML 1.0 Transitional//EN" "http://www.w3.org/TR/xhtml1/DTD/xhtml1-transitional.dtd">
|
||
<html xmlns="http://www.w3.org/1999/xhtml" xml:lang="en" lang="en">
|
||
|
||
<head><meta http-equiv="Content-Type" content="text/html; charset=utf-8" />
|
||
<!-- AppResources meta begin -->
|
||
<meta name="paf-app-resources" content="" />
|
||
<!-- AppResources meta end -->
|
||
|
||
<!-- TemplateResources meta begin -->
|
||
<meta name="paf_template" content="StdNCol" />
|
||
|
||
<!-- TemplateResources meta end -->
|
||
|
||
<!-- Page meta begin -->
|
||
<meta name="keywords" content="cancer, inherited syndromes, molecular, cytogenetic, biochemical, serology, immunology, microbiology, next generation sequencing, NGS, Sanger, gene, variants, mutations, virus, bacteria, genome, exome, pharmacogenomics, pharmacogenetic, oncology, genotype, phenotype, liquid biopsy, NCBI, HNF1A HNF1 homeobox A, HNF1 homeobox A, HNF1, LFB1, TCF1, HNF4A, MODY3, TCF-1, HNF-1A, IDDM20, HNF1alpha, HNF-1-alpha, GTR Gene, GTR, Genetic Testing Registry, NCBI" />
|
||
<meta name="description" content=" Clinical resource with information about HNF1A, Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore?, Biological, clinical and population relevance of 95 loci for blood lipids., Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease., Common variants at 30 loci contribute to polygenic dyslipidemia., Diabetes mellitus type 1, Discovery and refinement of loci associated with lipid levels., Genetic associations with C-reactive protein level and white blood cell count in the KARE study., Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease., Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids., Genome-wide association analyses identify 18 new loci associated with serum urate concentrations., Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease., Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women., Genome-wide association study for C-reactive protein levels identified pleiotropic associations in the IL6 locus., Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma., Genome-wide association study of type 2 diabetes in a sample from Mexico City and a meta-analysis of a Mexican-American sample from Starr County, Texas., Genome-wide association with C-reactive protein levels in CLHNS: evidence for the CRP and HNF1A loci and their interaction with exposure to a pathogenic environment., Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility., Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1&amp;#x003b1; as a master regulator of plasma protein fucosylation., Hepatic adenomas, familial, Joint influence of small-effect genetic variants on human longevity., Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits., Loci affecting gamma-glutamyl transferase in adults and adolescents show age &amp;#x000d7; SNP interaction and cardiometabolic disease associations., Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study., Maturity-onset diabetes of the young type 3, Meta-analysis of genome-wide association studies in &amp;gt;80 000 subjects identifies multiple loci for C-reactive protein levels., New susceptibility locus for coronary artery disease on chromosome 3q22.3., New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis., Nonpapillary renal cell carcinoma, Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein., Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes., Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis., Type 1 diabetes mellitus 20, Type 2 diabetes mellitus, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov." />
|
||
|
||
<meta name="ncbi_pinger_click_ping_selector" content="button:not([data-pinger-ignore]), input[type=button]:not([data-pinger-ignore]), input[type=submit]:not([data-pinger-ignore]), input[type=reset]:not([data-pinger-ignore]), a:not([data-pinger-ignore]), area:not([data-pinger-ignore]), input[type=checkbox]:not([data-pinger-ignore])" />
|
||
|
||
|
||
<!-- Page meta end -->
|
||
|
||
<!-- Logger begin -->
|
||
<meta xmlns:ncbi-portal="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" name="ncbi_app" content="gtr" /><meta xmlns:ncbi-portal="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" name="ncbi_pdid" content="gtr-genes-item-page" />
|
||
<!-- Logger end -->
|
||
|
||
<title>HNF1A HNF1 homeobox A - NIH Genetic Testing Registry (GTR) - NCBI</title>
|
||
|
||
<!-- PageFixtures headcontent begin -->
|
||
<meta content="gtr" name="ncbi_db" /><meta content="index, follow, noarchive" name="robots" /><meta content="IE=edge,chrome=1" http-equiv="X-UA-Compatible" />
|
||
|
||
|
||
<!-- PageFixtures headcontent end -->
|
||
|
||
<!-- AppResources external_resources begin -->
|
||
<script type="text/javascript" src="/core/jig/1.15.6/js/jig.min.js"></script>
|
||
|
||
<!-- AppResources external_resources end -->
|
||
|
||
<!-- Page headcontent begin -->
|
||
|
||
<!-- Page headcontent end -->
|
||
<!-- PageFixtures resources begin -->
|
||
<link xmlns="http://www.w3.org/1999/xhtml" type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4218191/css/4207974/4206132.css" xml:base="http://127.0.0.1/sites/static/header_footer" />
|
||
|
||
<!-- PageFixtures resources end -->
|
||
<link rel="shortcut icon" href="//www.ncbi.nlm.nih.gov/favicon.ico" /><meta name="ncbi_phid" content="CE8D8D117C8C22510000000000AE008D.m_15" />
|
||
<meta name='referrer' content='origin-when-cross-origin'/><link type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4221774/css/4121862/3974050/3917732/251717/4171260/14534/45193/4003309/4114245/3915402/4110101/4173824/4005757/3595095/4128070/9685/3549676/3609192/3609193/3609213.css" /><link type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4221774/css/3529741/3449750.css" media="print" /></head>
|
||
<body class=" gtr-genes-item-page">
|
||
<div class="grid">
|
||
<div class="col twelve_col nomargin shadow">
|
||
<!-- System messages like service outage or JS required; this is handled by the TemplateResources portlet -->
|
||
<div class="sysmessages">
|
||
<noscript>
|
||
<p class="nojs">
|
||
<strong>Warning:</strong>
|
||
The NCBI web site requires JavaScript to function.
|
||
<a href="/guide/browsers/#enablejs" title="Learn how to enable JavaScript" target="_blank">more...</a>
|
||
</p>
|
||
</noscript>
|
||
</div>
|
||
<!--/.sysmessage-->
|
||
<div class="wrap">
|
||
<div class="page">
|
||
<div xmlns:xi="http://www.w3.org/2001/XInclude">
|
||
<div xmlns="http://www.w3.org/1999/xhtml" id="universal_header" xml:base="http://127.0.0.1/sites/static/header_footer">
|
||
<section class="usa-banner">
|
||
<div class="usa-accordion">
|
||
<header class="usa-banner-header">
|
||
<div class="usa-grid usa-banner-inner">
|
||
<img src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/favicons/favicon-57.png" alt="U.S. flag" />
|
||
<p>An official website of the United States government</p>
|
||
<button class="non-usa-accordion-button usa-banner-button" aria-expanded="false" aria-controls="gov-banner-top" type="button">
|
||
<span class="usa-banner-button-text">Here's how you know</span>
|
||
</button>
|
||
</div>
|
||
</header>
|
||
<div class="usa-banner-content usa-grid usa-accordion-content" id="gov-banner-top" aria-hidden="true">
|
||
<div class="usa-banner-guidance-gov usa-width-one-half">
|
||
<img class="usa-banner-icon usa-media_block-img" src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-dot-gov.svg" alt="Dot gov" />
|
||
<div class="usa-media_block-body">
|
||
<p>
|
||
<strong>The .gov means it's official.</strong>
|
||
<br />
|
||
Federal government websites often end in .gov or .mil. Before
|
||
sharing sensitive information, make sure you're on a federal
|
||
government site.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
<div class="usa-banner-guidance-ssl usa-width-one-half">
|
||
<img class="usa-banner-icon usa-media_block-img" src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-https.svg" alt="Https" />
|
||
<div class="usa-media_block-body">
|
||
<p>
|
||
<strong>The site is secure.</strong>
|
||
<br />
|
||
The <strong>https://</strong> ensures that you are connecting to the
|
||
official website and that any information you provide is encrypted
|
||
and transmitted securely.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
<div class="usa-overlay"></div>
|
||
<header class="ncbi-header" role="banner" data-section="Header">
|
||
|
||
<div class="usa-grid">
|
||
<div class="usa-width-one-whole">
|
||
|
||
<div class="ncbi-header__logo">
|
||
<a href="/" class="logo" aria-label="NCBI Logo" data-ga-action="click_image" data-ga-label="NIH NLM Logo">
|
||
<img src="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/logos/AgencyLogo.svg" alt="NIH NLM Logo" />
|
||
</a>
|
||
</div>
|
||
|
||
<div class="ncbi-header__account">
|
||
<a id="account_login" href="https://account.ncbi.nlm.nih.gov" class="usa-button header-button" style="display:none" data-ga-action="open_menu" data-ga-label="account_menu">Log in</a>
|
||
<button id="account_info" class="header-button" style="display:none" aria-controls="account_popup" type="button">
|
||
<span class="fa fa-user" aria-hidden="true">
|
||
<svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 24 24" width="20px" height="20px">
|
||
<g style="fill: #fff">
|
||
<ellipse cx="12" cy="8" rx="5" ry="6"></ellipse>
|
||
<path d="M21.8,19.1c-0.9-1.8-2.6-3.3-4.8-4.2c-0.6-0.2-1.3-0.2-1.8,0.1c-1,0.6-2,0.9-3.2,0.9s-2.2-0.3-3.2-0.9 C8.3,14.8,7.6,14.7,7,15c-2.2,0.9-3.9,2.4-4.8,4.2C1.5,20.5,2.6,22,4.1,22h15.8C21.4,22,22.5,20.5,21.8,19.1z"></path>
|
||
</g>
|
||
</svg>
|
||
</span>
|
||
<span class="username desktop-only" aria-hidden="true" id="uname_short"></span>
|
||
<span class="sr-only">Show account info</span>
|
||
</button>
|
||
</div>
|
||
|
||
<div class="ncbi-popup-anchor">
|
||
<div class="ncbi-popup account-popup" id="account_popup" aria-hidden="true">
|
||
<div class="ncbi-popup-head">
|
||
<button class="ncbi-close-button" data-ga-action="close_menu" data-ga-label="account_menu" type="button">
|
||
<span class="fa fa-times">
|
||
<svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 48 48" width="24px" height="24px">
|
||
<path d="M38 12.83l-2.83-2.83-11.17 11.17-11.17-11.17-2.83 2.83 11.17 11.17-11.17 11.17 2.83 2.83 11.17-11.17 11.17 11.17 2.83-2.83-11.17-11.17z"></path>
|
||
</svg>
|
||
</span>
|
||
<span class="usa-sr-only">Close</span></button>
|
||
<h4>Account</h4>
|
||
</div>
|
||
<div class="account-user-info">
|
||
Logged in as:<br />
|
||
<b><span class="username" id="uname_long">username</span></b>
|
||
</div>
|
||
<div class="account-links">
|
||
<ul class="usa-unstyled-list">
|
||
<li><a id="account_myncbi" href="/myncbi/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_myncbi">Dashboard</a></li>
|
||
<li><a id="account_pubs" href="/myncbi/collections/bibliography/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_pubs">Publications</a></li>
|
||
<li><a id="account_settings" href="/account/settings/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_settings">Account settings</a></li>
|
||
<li><a id="account_logout" href="/account/signout/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_logout">Log out</a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</header>
|
||
<div role="navigation" aria-label="access keys">
|
||
<a id="nws_header_accesskey_0" href="https://www.ncbi.nlm.nih.gov/guide/browsers/#ncbi_accesskeys" class="usa-sr-only" accesskey="0" tabindex="-1">Access keys</a>
|
||
<a id="nws_header_accesskey_1" href="https://www.ncbi.nlm.nih.gov" class="usa-sr-only" accesskey="1" tabindex="-1">NCBI Homepage</a>
|
||
<a id="nws_header_accesskey_2" href="/myncbi/" class="set-base-url usa-sr-only" accesskey="2" tabindex="-1">MyNCBI Homepage</a>
|
||
<a id="nws_header_accesskey_3" href="#maincontent" class="usa-sr-only" accesskey="3" tabindex="-1">Main Content</a>
|
||
<a id="nws_header_accesskey_4" href="#" class="usa-sr-only" accesskey="4" tabindex="-1">Main Navigation</a>
|
||
</div>
|
||
<section data-section="Alerts">
|
||
<div class="ncbi-alerts-placeholder"></div>
|
||
</section>
|
||
</div>
|
||
</div>
|
||
<!--/.header-->
|
||
<div class="header">
|
||
|
||
<div class="gtr_logo"><a href="/gtr" title="Genetic Testing Registry">NIH Genetic Testing Registry</a></div>
|
||
<div><div class="header_con2"><div id="searchBox" class="smallSearchBox"><form id="formSearch" data-selected-scope="genes" action="https://www.ncbi.nlm.nih.gov/gtr/" method="get"><div class="formFields noWrap"><label for="gtr_term" class="ui-helper-hidden-accessible">Search term</label><input id="gtr_term" name="term" type="text" data-jig="ncbiautocomplete" value="C1848392[DISCUI]" data-jigconfig="maxListLimit: 15" data-dictionary="gtr_gene_name_restrict" /><select name="scope" class="scope_sel" id="scope"><option value="gtr">All GTR</option><option value="conditions">Conditions/Phenotypes</option><option value="genes" selected="selected">Genes</option><option value="tests">Human Tests</option><option value="testsmicrobe">Microbe Tests</option><option value="labs">Labs</option></select><button type="submit" id="submitSearchButton" class="gtr-button-submit ui-ncbibutton-blue">Search</button><a href="/gtr/tests/advanced/" id="go-to-advanced-search">Advanced search for tests</a></div></form></div></div></div>
|
||
|
||
|
||
|
||
</div>
|
||
<div class="nav_and_browser">
|
||
|
||
</div>
|
||
<div class="display_bar">
|
||
<div class="br-first">
|
||
<span class="br_text">
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr">GTR Home</a>
|
||
</span>
|
||
<span class="br_sep">></span>
|
||
<span class="br_text">
|
||
<span>Genes</span>
|
||
</span>
|
||
<span class="br-extra">
|
||
<div class="extra_links">
|
||
<span class="br_sep">></span>
|
||
<span>HNF1A</span>
|
||
</div>
|
||
</span>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- was itemctrl -->
|
||
<div class="container">
|
||
<div id="maincontent" class="content col twelve_col last">
|
||
<div class="col1">
|
||
<div id="gtr_page_cont">
|
||
|
||
<div class="col nine_col" id="gtr_maincontent">
|
||
<div class="rprt"><h1 class="g_title"><span class="gn"><em>HNF1A</em></span> HNF1 homeobox A</h1><span class="geneid">Gene ID: 6927, updated on
|
||
4-Mar-2025</span><br /><span class="geneid">Gene type: protein coding</span><br /><span class="known-as"><em>Also known as: </em>HNF1; LFB1; TCF1; HNF4A; MODY3; TCF-1; HNF-1A; IDDM20; HNF1alpha; HNF-1-alpha</span><ul class="inline-list" style="padding-left:0;"><li><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=6927[geneid]" data-ga-label="see_all_available_tests">See all available tests in GTR for this gene</a></li><li><a href="/gene/6927/" ref="log_uid=6927&ncbi_uid=6927" data-ga-label="go_to_complete_gene_record">Go to complete Gene record for HNF1A</a></li><li><a href="/variation/view/?assm=GCF_000001405.25&q=HNF1A[gene]" ref="ncbi_uid=6927" data-ga-label="go_to_variation_viewer">Go to Variation Viewer for HNF1A variants</a></li></ul><h2>Summary</h2><p>The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]</p><div id="associated-conditions"><h2>Associated conditions</h2><p><a href="/gtr/all/tests/?term=6927[geneid]" data-ga-label="see_all_available_tests">See all available tests in GTR for this gene</a></p><div class="associated-conditions-table"><table class="jig-ncbigrid gtr-associated-cond"><thead><tr><th class="description">Description</th><th>Tests</th></tr></thead><tbody><tr><td>Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore?<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td>Biological, clinical and population relevance of 95 loci for blood lipids.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td>Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td>Common variants at 30 loci contribute to polygenic dyslipidemia.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td><a href="/gtr/conditions/C0011854" ref="ncbi_uid=6927&link_uid=C0011854" data-ga-label="condition">Diabetes mellitus type 1</a><div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">MedGen: <a href="/medgen/C0011854" ref="ncbi_uid=6927&link_uid=C0011854" data-ga-label="medgen">C0011854</a></span><span class="gtr-associated-cond-extra-i">OMIM: <a href="https://www.ncbi.nlm.nih.gov/omim/222100" ref="ncbi_uid=6927" data-ga-label="omim"> 222100</a></span><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td><a href="/gtr/all/labs/?term=C0011854[DISCUI]" ref="ncbi_uid=6927" data-ga-label="labs">See labs</a></td></tr><tr><td>Discovery and refinement of loci associated with lipid levels.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td>Genetic associations with C-reactive protein level and white blood cell count in the KARE study.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td>Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td>Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td>Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td>Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td>Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td>Genome-wide association study for C-reactive protein levels identified pleiotropic associations in the IL6 locus.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td>Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td>Genome-wide association study of type 2 diabetes in a sample from Mexico City and a meta-analysis of a Mexican-American sample from Starr County, Texas.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td>Genome-wide association with C-reactive protein levels in CLHNS: evidence for the CRP and HNF1A loci and their interaction with exposure to a pathogenic environment.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td>Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td>Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1&amp;#x003b1; as a master regulator of plasma protein fucosylation.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td><a href="/gtr/conditions/C1840646" ref="ncbi_uid=6927&link_uid=C1840646" data-ga-label="condition">Hepatic adenomas, familial</a><div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">MedGen: <a href="/medgen/C1840646" ref="ncbi_uid=6927&link_uid=C1840646" data-ga-label="medgen">C1840646</a></span><span class="gtr-associated-cond-extra-i">OMIM: <a href="https://www.ncbi.nlm.nih.gov/omim/142330" ref="ncbi_uid=6927" data-ga-label="omim"> 142330</a></span><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td><a href="/gtr/all/labs/?term=C1840646[DISCUI]" ref="ncbi_uid=6927" data-ga-label="labs">See labs</a></td></tr><tr><td>Joint influence of small-effect genetic variants on human longevity.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td>Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td>Loci affecting gamma-glutamyl transferase in adults and adolescents show age &amp;#x000d7; SNP interaction and cardiometabolic disease associations.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td>Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td><a href="/gtr/conditions/C1838100" ref="ncbi_uid=6927&link_uid=C1838100" data-ga-label="condition">Maturity-onset diabetes of the young type 3</a><div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">MedGen: <a href="/medgen/C1838100" ref="ncbi_uid=6927&link_uid=C1838100" data-ga-label="medgen">C1838100</a></span><span class="gtr-associated-cond-extra-i">OMIM: <a href="https://www.ncbi.nlm.nih.gov/omim/600496" ref="ncbi_uid=6927" data-ga-label="omim"> 600496</a></span><span class="gtr-associated-cond-extra-i">GeneReviews: <a href="/books/NBK500456" ref="ncbi_uid=6927" data-ga-label="gene_reviews">Maturity-Onset Diabetes of the Young Overview</a></span></div></td><td><a href="/gtr/all/labs/?term=C1838100[DISCUI]" ref="ncbi_uid=6927" data-ga-label="labs">See labs</a></td></tr><tr><td>Meta-analysis of genome-wide association studies in &amp;gt;80 000 subjects identifies multiple loci for C-reactive protein levels.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td>New susceptibility locus for coronary artery disease on chromosome 3q22.3.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td>New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td><a href="/gtr/conditions/CN074294" ref="ncbi_uid=6927&link_uid=CN074294" data-ga-label="condition">Nonpapillary renal cell carcinoma</a><div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">MedGen: <a href="/medgen/CN074294" ref="ncbi_uid=6927&link_uid=CN074294" data-ga-label="medgen">CN074294</a></span><span class="gtr-associated-cond-extra-i">OMIM: <a href="https://www.ncbi.nlm.nih.gov/omim/144700" ref="ncbi_uid=6927" data-ga-label="omim"> 144700</a></span><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td><a href="/gtr/all/labs/?term=CN074294[DISCUI]" ref="ncbi_uid=6927" data-ga-label="labs">See labs</a></td></tr><tr><td>Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td>Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td>Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td><a href="/gtr/conditions/C2675866" ref="ncbi_uid=6927&link_uid=C2675866" data-ga-label="condition">Type 1 diabetes mellitus 20</a><div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">MedGen: <a href="/medgen/C2675866" ref="ncbi_uid=6927&link_uid=C2675866" data-ga-label="medgen">C2675866</a></span><span class="gtr-associated-cond-extra-i">OMIM: <a href="https://www.ncbi.nlm.nih.gov/omim/612520" ref="ncbi_uid=6927" data-ga-label="omim"> 612520</a></span><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td><a href="/gtr/all/labs/?term=C2675866[DISCUI]" ref="ncbi_uid=6927" data-ga-label="labs">See labs</a></td></tr><tr><td><a href="/gtr/conditions/C0011860" ref="ncbi_uid=6927&link_uid=C0011860" data-ga-label="condition">Type 2 diabetes mellitus</a><div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">MedGen: <a href="/medgen/C0011860" ref="ncbi_uid=6927&link_uid=C0011860" data-ga-label="medgen">C0011860</a></span><span class="gtr-associated-cond-extra-i">OMIM: <a href="https://www.ncbi.nlm.nih.gov/omim/125853" ref="ncbi_uid=6927" data-ga-label="omim"> 125853</a></span><span class="gtr-associated-cond-extra-i">GeneReviews: <a href="/books/NBK4144" ref="ncbi_uid=6927" data-ga-label="gene_reviews">WFS1 Spectrum Disorder</a></span></div></td><td><a href="/gtr/all/labs/?term=C0011860[DISCUI]" ref="ncbi_uid=6927" data-ga-label="labs">See labs</a></td></tr></tbody></table></div></div><div id="copy-number-of-resp"><h2>Copy number response</h2><div><table class="jig-ncbigrid gtr-associated-cond" data-jigconfig="isPageable: true, pageSize: 10"><thead><tr><th class="description">Description</th></tr></thead><tbody><tr><td>Copy number response<div class="gtr-associated-cond-extra"><div class="gtr-associated-cond-extra-c"><span style="color:#000;">Triplosensitivity</span><div><p>No evidence available (Last evaluated 2023-12-13)</p><span class="gtr-associated-cond-extra-i"><a href="https://www.ncbi.nlm.nih.gov/projects/dbvar/ISCA/isca_gene.cgi?sym=HNF1A">ClinGen Genome Curation Page</a></span></div></div><div class="gtr-associated-cond-extra-c"><span style="color:#000;">Haploinsufficency</span><div><p>Sufficient evidence for dosage pathogenicity (Last evaluated 2023-12-13)</p><span class="gtr-associated-cond-extra-i"><a href="https://www.ncbi.nlm.nih.gov/projects/dbvar/ISCA/isca_gene.cgi?sym=HNF1A">ClinGen Genome Curation Page</a></span><span class="gtr-associated-cond-extra-i"><a href="/pubmed/11668618,12574234,8945470,9097962,9166684">PubMed</a></span></div></div></div></td></tr></tbody></table></div></div><div id="genomic-context"><h2>Genomic context</h2><div class="map_location_wr"><div class="ch_location-wr"><dl class="chr_location"><dt>Location:</dt><dd>12q24.31</dd></dl><dl class="chr_location"><dt>Sequence: </dt><dd>Chromosome: 12; NC_000012.12 (120978543..121002512)</dd></dl><dl class="chr_location"><dt>Total number of exons:</dt><dd>9</dd></dl></div><div class="note-link"></div></div><div class="viewer"><div class="choose"><label for="accession" class="label">Genomic Sequence </label><select name="accessionList" sid="1" id="accessionList"><option value="NC_000012.12_120978542_121002511" data-assembly="GRCh38.p14">NC_000012 Chromosome 12 Reference GRCh38.p14 Primary Assembly (location A)</option><option value="NC_000012.11_121416345_121440314" data-assembly="GRCh37.p13">NC_000012 Chromosome 12 Reference GRCh37.p13 Primary Assembly (location B)</option><option value="NC_060936.1_120968228_120992126" data-assembly="T2T-CHM13v2.0">NC_060936 Chromosome 12 Alternate T2T-CHM13v2.0 (location A)</option><option value="NG_011731.2_4822_28766" data-assembly="">NG_011731 RefSeqGene</option></select></div><script type="text/javascript" src="/projects/sviewer/js/sviewer.js" id="autoload"></script><div id="NC_000012" class="divAccession"><div class="seq-viewer"><p class="note-link"><strong>Go to nucleotide</strong><a href="/nuccore/NC_000012.12?report=graph&from=120974947&to=121006106&tracks=[key:sequence_track,name:Sequence,display_name:Sequence,category:Sequence,annots:Sequence,ShowLabel:false][key:gene_model_track,name:Genes---Unnamed,display_name:Genes,annots:Unnamed,Options:MergePairs,SNPs:false,CDSProductFeats:true,ShowLabelsForAllFeatures:true,HighlightMode:2][key:feature_track,name:Genes---other,display_name:Genes - other,subkey:ncRNA,annots:other,Layout:Adaptive][key:feature_track,name:Genes---tRNA,display_name:Genes - tRNA,subkey:tRNA,annots:tRNA,Layout:Adaptive][key:SNP_track,name:SNP,annots:SNP,Layout:Adaptive][key:SNP_Bins_track,name:Clinical Variants][key:SNP_Bins_track,name:Cited Variants][key:GWAS_track,name:GWAS Tracks,display_name:Association Results]" title="Nucleotide graphic report" ref="ordinalpos=1&ncbi_uid=&link_uid=NC_000012.12">Graphics</a> <a href="/nuccore/NC_000012.12?report=fasta&from=120974947&to=121006106" title="Nucleotide graphic report" ref="ordinalpos=1&ncbi_uid=&link_uid=NC_000012.12">FASTA</a> <a href="/nuccore/NC_000012.12?report=genbank&from=120974947&to=121006106" title="Nucleotide GenBank report" ref="ordinalpos=1&ncbi_uid=&link_uid=NC_000012.12">GenBank</a> </p><div id="divNC_000012" class="SeqViewerApp" style="clear:both;" data-sv="appname=ncbi-portal-gtr&embedded=true&noslider=1&id=NC_000012.12&from=120974947&to=121006106&tracks=[key:sequence_track,name:Sequence,display_name:Sequence,category:Sequence,annots:Sequence,ShowLabel:false][key:gene_model_track,name:Genes---Unnamed,display_name:Genes,annots:Unnamed,Options:MergePairs,SNPs:false,CDSProductFeats:true,ShowLabelsForAllFeatures:true,HighlightMode:2][key:feature_track,name:Genes---other,display_name:Genes - other,subkey:ncRNA,annots:other,Layout:Adaptive][key:feature_track,name:Genes---tRNA,display_name:Genes - tRNA,subkey:tRNA,annots:tRNA,Layout:Adaptive][key:SNP_track,name:SNP,annots:SNP,Layout:Adaptive][key:SNP_Bins_track,name:Clinical Variants][key:SNP_Bins_track,name:Cited Variants][key:GWAS_track,name:GWAS Tracks,display_name:Association Results]"><a href="?appname=ncbi-portal-gtr&embedded=true&noslider=1&id=NC_000012.12&from=120974947&to=121006106&tracks=[key:sequence_track,name:Sequence,display_name:Sequence,category:Sequence,annots:Sequence,ShowLabel:false][key:gene_model_track,name:Genes---Unnamed,display_name:Genes,annots:Unnamed,Options:MergePairs,SNPs:false,CDSProductFeats:true,ShowLabelsForAllFeatures:true,HighlightMode:2][key:feature_track,name:Genes---other,display_name:Genes - other,subkey:ncRNA,annots:other,Layout:Adaptive][key:feature_track,name:Genes---tRNA,display_name:Genes - tRNA,subkey:tRNA,annots:tRNA,Layout:Adaptive][key:SNP_track,name:SNP,annots:SNP,Layout:Adaptive][key:SNP_Bins_track,name:Clinical Variants][key:SNP_Bins_track,name:Cited Variants][key:GWAS_track,name:GWAS Tracks,display_name:Association Results]"></a></div></div></div><input name="nucleotideLink_NC_000012.12" sid="1" type="hidden" id="nucleotideLink_NC_000012_12_120978542_121002511" value="<p class="note-link"><strong class="margin_r1">Go to nucleotide</strong><a title="Nucleotide Graphic report" href="/nuccore/NC_000012.12?report=graph&amp;from=120974947&amp;to=121006106&amp;content=5" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_000012.12">Graphics</a><a title="Nucleotide FASTA report" href="/nuccore/NC_000012.12?report=fasta&amp;from=120978543&amp;to=121002512" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_000012.12">FASTA</a><a title="Nucleotide GenBank report" href="/nuccore/NC_000012.12?report=genbank&amp;from=120978543&amp;to=121002512" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_000012.12">GenBank</a></p>" /><input name="relString_NC_000012.12" sid="1" type="hidden" id="relString_NC_000012_12_120978542_121002511" value="embedded=true&amp;noslider=1&amp;id=NC_000012.12&amp;from=120974947&amp;to=121006106&amp;content=5" /><input name="nucleotideLink_NG_011731.2" sid="1" type="hidden" id="nucleotideLink_NG_011731_2_4822_28766" value="<p class="note-link"><strong class="margin_r1">Go to nucleotide</strong><a title="Nucleotide Graphic report" href="/nuccore/NG_011731.2?report=graph&amp;from=1230&amp;to=32358&amp;content=5" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NG_011731.2">Graphics</a><a title="Nucleotide FASTA report" href="/nuccore/NG_011731.2?report=fasta&amp;from=4823&amp;to=28767" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NG_011731.2">FASTA</a><a title="Nucleotide GenBank report" href="/nuccore/NG_011731.2?report=genbank&amp;from=4823&amp;to=28767" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NG_011731.2">GenBank</a></p>" /><input name="relString_NG_011731.2" sid="1" type="hidden" id="relString_NG_011731_2_4822_28766" value="embedded=true&amp;noslider=1&amp;id=NG_011731.2&amp;from=1230&amp;to=32358&amp;content=5" /><input name="nucleotideLink_NC_060936.1" sid="1" type="hidden" id="nucleotideLink_NC_060936_1_120968228_120992126" value="<p class="note-link"><strong class="margin_r1">Go to nucleotide</strong><a title="Nucleotide Graphic report" href="/nuccore/NC_060936.1?report=graph&amp;from=120964643&amp;to=120995711&amp;content=5" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_060936.1">Graphics</a><a title="Nucleotide FASTA report" href="/nuccore/NC_060936.1?report=fasta&amp;from=120968229&amp;to=120992127" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_060936.1">FASTA</a><a title="Nucleotide GenBank report" href="/nuccore/NC_060936.1?report=genbank&amp;from=120968229&amp;to=120992127" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_060936.1">GenBank</a></p>" /><input name="relString_NC_060936.1" sid="1" type="hidden" id="relString_NC_060936_1_120968228_120992126" value="embedded=true&amp;noslider=1&amp;id=NC_060936.1&amp;from=120964643&amp;to=120995711&amp;content=5" /><input name="nucleotideLink_NC_000012.11" sid="1" type="hidden" id="nucleotideLink_NC_000012_11_121416345_121440314" value="<p class="note-link"><strong class="margin_r1">Go to nucleotide</strong><a title="Nucleotide Graphic report" href="/nuccore/NC_000012.11?report=graph&amp;from=121412750&amp;to=121443909&amp;content=5" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_000012.11">Graphics</a><a title="Nucleotide FASTA report" href="/nuccore/NC_000012.11?report=fasta&amp;from=121416346&amp;to=121440315" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_000012.11">FASTA</a><a title="Nucleotide GenBank report" href="/nuccore/NC_000012.11?report=genbank&amp;from=121416346&amp;to=121440315" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_000012.11">GenBank</a></p>" /><input name="relString_NC_000012.11" sid="1" type="hidden" id="relString_NC_000012_11_121416345_121440314" value="embedded=true&amp;noslider=1&amp;id=NC_000012.11&amp;from=121412750&amp;to=121443909&amp;content=5" /></div></div><div id="variation"><h2>Variation</h2><div class="ui-ncbigrid-outer-div"><div class="ui-ncbigrid-inner-div"><table class="jig-ncbigrid" data-jigconfig=""><thead><tr><th>Resource</th><th>Links for this gene</th></tr></thead><tbody><tr><td>ClinVar</td><td><a href="/clinvar?LinkName=gene_clinvar&from_uid=6927" ref="log$=recordlinks">Variants reported to ClinVar</a></td></tr><tr><td>dbVar</td><td><a href="/dbvar?LinkName=gene_dbvar&from_uid=6927" ref="log$=recordlinks">Studies and variants</a></td></tr><tr><td>SNP</td><td><a href="https://www.ncbi.nlm.nih.gov/variation/view/?q=HNF1A%5bgenesymbol%5d&filters=source:dbsnp" ref="ncbi_uid=6927">Variation Viewer for HNF1A variants</a></td></tr><tr><td>Genome viewer</td><td><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?id=GSM923418,GSM923422,GSM923420&context=GEO&assm=GCF_000001405.25&q=HNF1A%5bgenesymbol%5d">Explore NCBI-annotated and select non-NCBI annotated genome assemblies</a></td></tr></tbody></table></div></div></div><div id="related-pubmed"><h2>Related articles in PubMed</h2><dl><dt><a href="/pubmed?LinkName=gene_pubmed_citedinomim&from_uid=6927" ref="ncbi_uid=6927&from=gtr_gene_related_pubmed_section" data-ga-label="pubmed_omim">PubMed-OMIM</a></dt><dd>publications in PubMed explicitly cited by the gene record in OMIM.
|
||
</dd><dt><a href="/pubmed/clinical/?term=HNF1A" data-ga-label="pubmed_clinical">PubMed Clinical Queries</a></dt><dd>publications in PubMed limited specific clinical
|
||
research.</dd><dt><a href="/pubmed/?LinkName=gene_pubmed&from_uid=6927" data-ga-label="pubmed_all_related">All related articles in PubMed</a></dt><dd>sorted by relevance are shown below. <a href="/pubmed/?LinkName=gene_pubmed&from_uid=6927" data-ga-label="pubmed_all_related">Click to see all (538) citations.</a></dd></dl><div class="generefbl-link"><ol class="generef-link"><li><a href="/pubmed/25581748/" ref="ncbi_uid=6927&link_uid=25581748" data-ga-label="pubmed_article">Maturity-onset diabetes of the young (MODY): an update.</a><span class="pubmed-auth-date"><br />Anık A, Çatlı G, Abacı A, Böber EAnık A, <em>et al</em>. J Pediatr Endocrinol Metab, 2015 Mar. PMID 25581748</span></li><li><a href="/pubmed/16249556/" ref="ncbi_uid=6927&link_uid=16249556" data-ga-label="pubmed_article">Renal malformations may be linked to mutations in the hepatocyte nuclear factor-1alpha (MODY3) gene.</a><span class="pubmed-auth-date"><br />Malecki MT, Skupien J, Gorczynska-Kosiorz S, Klupa T, Nazim J, Moczulski DK, Sieradzki JMalecki MT, <em>et al</em>. Diabetes Care, 2005 Nov. PMID 16249556</span></li><li><a href="/pubmed/26646800/" ref="ncbi_uid=6927&link_uid=26646800" data-ga-label="pubmed_article">Hepatocyte Nuclear Factor 1α Mutation-associated MODY-3 and Familial Liver Adenomatosis.</a><span class="pubmed-auth-date"><br />Cantu S, Krier J, Hashemi NCantu S, <em>et al</em>. J Clin Gastroenterol, 2016 Feb. PMID 26646800</span></li><li><a href="/pubmed/20031592/" ref="ncbi_uid=6927&link_uid=20031592" data-ga-label="pubmed_article">Common coding variants of the HNF1A gene are associated with multiple cardiovascular risk phenotypes in community-based samples of younger and older European-American adults: the Coronary Artery Risk Development in Young Adults Study and The Cardiovascular Health Study.</a><span class="pubmed-auth-date"><br />Reiner AP, Gross MD, Carlson CS, Bielinski SJ, Lange LA, Fornage M, Jenny NS, Walston J, Tracy RP, Williams OD, Jacobs DR Jr, Nickerson DAReiner AP, <em>et al</em>. Circ Cardiovasc Genet, 2009 Jun. PMID 20031592</span></li><li><a href="/pubmed/26436572/" ref="ncbi_uid=6927&link_uid=26436572" data-ga-label="pubmed_article">Hepatocyte nuclear factor-α genetic mutation in a Chinese pedigree with maturity-onset diabetes of the young (MODY3).</a><span class="pubmed-auth-date"><br />Zhang M, Wang T, Shi L, Yang YZhang M, <em>et al</em>. Diabetes Metab Res Rev, 2015 Oct. PMID 26436572</span></li></ol></div></div></div>
|
||
</div>
|
||
|
||
<div class="col three_col last" id="gtr_sidebar">
|
||
|
||
<div class="supplemental">
|
||
|
||
|
||
<div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Content on this page</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="contentonthispage" id="Shutter"></a></div><div class="portlet_content"><ul><li><a href="#summary">Summary</a></li><li><a href="#associated-conditions">Associated conditions</a></li><li><a href="#copy-number-of-resp">Copy number response</a></li><li><a href="#genomic-context">Genomic context</a></li><li><a href="#variation">Variation</a></li><li><a href="#related-pubmed">Related articles in PubMed</a></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Links</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Links" id="Shutter"></a></div><div class="portlet_content"><ul><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/clinvar?LinkName=gene_clinvar&from_uid=6927" ref="ncbi_uid=6927&discoId=gtr_links&linkpos=1&linkpostotal=8" target="_blank">ClinVar</a><div class="brieflinkpop offscreen_noflow">Related medical variations</div></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/dbvar?LinkName=gene_dbvar&from_uid=6927" ref="ncbi_uid=6927&discoId=gtr_links&linkpos=2&linkpostotal=8" target="_blank">dbVar</a><div class="brieflinkpop offscreen_noflow">Link from Gene to dbVar</div></li><li><a href="http://www.LOVD.nl/HNF1A">HNF1 homeobox A (HNF1A) @ LOVD</a></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/medgen?LinkName=gene_medgen_diseases&from_uid=6927" ref="ncbi_uid=6927&discoId=gtr_links&linkpos=3&linkpostotal=8" target="_blank">MedGen</a><div class="brieflinkpop offscreen_noflow">Related information in MedGen</div></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/omim?LinkName=gene_omim&from_uid=6927" ref="ncbi_uid=6927&discoId=gtr_links&linkpos=4&linkpostotal=8" target="_blank">OMIM</a><div class="brieflinkpop offscreen_noflow">Link to related OMIM entry</div></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/pubmed?LinkName=gene_pubmed_citedinomim&from_uid=6927" ref="ncbi_uid=6927&discoId=gtr_links&linkpos=5&linkpostotal=8" target="_blank">PubMed (OMIM)</a><div class="brieflinkpop offscreen_noflow">Gene links to PubMed derived from omim_pubmed_cited links</div></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/nuccore?LinkName=gene_nuccore_refseqrna&from_uid=6927" ref="ncbi_uid=6927&discoId=gtr_links&linkpos=6&linkpostotal=8" target="_blank">RefSeq RNAs</a><div class="brieflinkpop offscreen_noflow">Link to Nucleotide RefSeq RNAs</div></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/nuccore?LinkName=gene_nuccore_refseqgene&from_uid=6927" ref="ncbi_uid=6927&discoId=gtr_links&linkpos=7&linkpostotal=8" target="_blank">RefSeqGene</a><div class="brieflinkpop offscreen_noflow">Link to Nucleotide RefSeqGenes</div></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/variation/view/?q=6927[geneid]" ref="ncbi_uid=6927&discoId=gtr_links&linkpos=8&linkpostotal=8" target="_blank">Variation Viewer</a><div class="brieflinkpop offscreen_noflow">Related Variants</div></li></ul></div></div>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="gtr-disclaimer col twelve_col last">
|
||
<p><strong>IMPORTANT NOTE: </strong>NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. <em><strong>Patients and consumers</strong></em> with specific questions about a genetic test should contact a health care provider or a genetics professional.</p>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<!--/.col1-->
|
||
<div class="col2">
|
||
|
||
</div>
|
||
<!--/.col2-->
|
||
<div class="col3">
|
||
|
||
</div>
|
||
<!--/.col3-->
|
||
<div class="col4">
|
||
|
||
</div>
|
||
<!--/.col4-->
|
||
<div class="col5">
|
||
|
||
</div>
|
||
<div class="col6">
|
||
|
||
</div>
|
||
<div class="col7">
|
||
|
||
</div>
|
||
<div class="col8">
|
||
|
||
</div>
|
||
<div class="col9">
|
||
|
||
</div>
|
||
</div><!--/.content-->
|
||
</div><!--/.container-->
|
||
<div id="NCBIFooter_dynamic">
|
||
<!--<component id="NCBIBreadcrumbs"/>
|
||
<component id="NCBIHelpDesk"/>-->
|
||
<noscript><img alt="" src="/stat?jsdisabled=true&ncbi_app=gtr&ncbi_db=&ncbi_pdid=gtr-genes-item-page&ncbi_phid=CE8D8D117C8C22510000000000AE008D" /></noscript>
|
||
</div>
|
||
|
||
|
||
<div xmlns:xi="http://www.w3.org/2001/XInclude">
|
||
<div xmlns="http://www.w3.org/1999/xhtml" class="footer" id="footer" xml:base="http://127.0.0.1/sites/static/header_footer">
|
||
<section class="icon-section">
|
||
<div id="icon-section-header" class="icon-section_header">Follow NCBI</div>
|
||
<div class="grid-container container">
|
||
<div class="icon-section_container">
|
||
<a class="footer-icon" id="footer_twitter" href="https://twitter.com/ncbi" aria-label="Twitter">
|
||
<svg xmlns="http://www.w3.org/2000/svg" width="40" height="40" viewBox="0 0 40 40" fill="none">
|
||
<title>Twitter</title>
|
||
<g id="twitterx1008">
|
||
<path id="path1008" d="M6.06736 7L16.8778 20.8991L6.00001 32.2H10.2L18.6 23.1L25.668 32.2H34L22.8 17.5L31.9 7H28.4L20.7 15.4L14.401 7H6.06898H6.06736ZM9.66753 8.73423H12.9327L29.7327 30.4658H26.5697L9.66753 8.73423Z" fill="#5B616B"></path>
|
||
</g>
|
||
</svg>
|
||
</a>
|
||
<a class="footer-icon" id="footer_facebook" href="https://www.facebook.com/ncbi.nlm" aria-label="Facebook"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
|
||
<title>Facebook</title>
|
||
<path class="cls-11" d="M210.5,115.12H171.74V97.82c0-8.14,5.39-10,9.19-10h27.14V52l-39.32-.12c-35.66,0-42.42,26.68-42.42,43.77v19.48H99.09v36.32h27.24v109h45.41v-109h35Z">
|
||
</path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_linkedin" href="https://www.linkedin.com/company/ncbinlm" aria-label="LinkedIn"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
|
||
<title>LinkedIn</title>
|
||
<path class="cls-11" d="M101.64,243.37H57.79v-114h43.85Zm-22-131.54h-.26c-13.25,0-21.82-10.36-21.82-21.76,0-11.65,8.84-21.15,22.33-21.15S101.7,78.72,102,90.38C102,101.77,93.4,111.83,79.63,111.83Zm100.93,52.61A17.54,17.54,0,0,0,163,182v61.39H119.18s.51-105.23,0-114H163v13a54.33,54.33,0,0,1,34.54-12.66c26,0,44.39,18.8,44.39,55.29v58.35H198.1V182A17.54,17.54,0,0,0,180.56,164.44Z">
|
||
</path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_github" href="https://github.com/ncbi" aria-label="GitHub"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
|
||
<defs>
|
||
<style>
|
||
.cls-11,
|
||
.cls-12 {
|
||
fill: #737373;
|
||
}
|
||
|
||
.cls-11 {
|
||
fill-rule: evenodd;
|
||
}
|
||
</style>
|
||
</defs>
|
||
<title>GitHub</title>
|
||
<path class="cls-11" d="M151.36,47.28a105.76,105.76,0,0,0-33.43,206.1c5.28,1,7.22-2.3,7.22-5.09,0-2.52-.09-10.85-.14-19.69-29.42,6.4-35.63-12.48-35.63-12.48-4.81-12.22-11.74-15.47-11.74-15.47-9.59-6.56.73-6.43.73-6.43,10.61.75,16.21,10.9,16.21,10.9,9.43,16.17,24.73,11.49,30.77,8.79,1-6.83,3.69-11.5,6.71-14.14C108.57,197.1,83.88,188,83.88,147.51a40.92,40.92,0,0,1,10.9-28.39c-1.1-2.66-4.72-13.42,1-28,0,0,8.88-2.84,29.09,10.84a100.26,100.26,0,0,1,53,0C198,88.3,206.9,91.14,206.9,91.14c5.76,14.56,2.14,25.32,1,28a40.87,40.87,0,0,1,10.89,28.39c0,40.62-24.74,49.56-48.29,52.18,3.79,3.28,7.17,9.71,7.17,19.58,0,14.15-.12,25.54-.12,29,0,2.82,1.9,6.11,7.26,5.07A105.76,105.76,0,0,0,151.36,47.28Z">
|
||
</path>
|
||
<path class="cls-12" d="M85.66,199.12c-.23.52-1.06.68-1.81.32s-1.2-1.06-.95-1.59,1.06-.69,1.82-.33,1.21,1.07.94,1.6Zm-1.3-1">
|
||
</path>
|
||
<path class="cls-12" d="M90,203.89c-.51.47-1.49.25-2.16-.49a1.61,1.61,0,0,1-.31-2.19c.52-.47,1.47-.25,2.17.49s.82,1.72.3,2.19Zm-1-1.08">
|
||
</path>
|
||
<path class="cls-12" d="M94.12,210c-.65.46-1.71,0-2.37-.91s-.64-2.07,0-2.52,1.7,0,2.36.89.65,2.08,0,2.54Zm0,0"></path>
|
||
<path class="cls-12" d="M99.83,215.87c-.58.64-1.82.47-2.72-.41s-1.18-2.06-.6-2.7,1.83-.46,2.74.41,1.2,2.07.58,2.7Zm0,0">
|
||
</path>
|
||
<path class="cls-12" d="M107.71,219.29c-.26.82-1.45,1.2-2.64.85s-2-1.34-1.74-2.17,1.44-1.23,2.65-.85,2,1.32,1.73,2.17Zm0,0">
|
||
</path>
|
||
<path class="cls-12" d="M116.36,219.92c0,.87-1,1.59-2.24,1.61s-2.29-.68-2.3-1.54,1-1.59,2.26-1.61,2.28.67,2.28,1.54Zm0,0">
|
||
</path>
|
||
<path class="cls-12" d="M124.42,218.55c.15.85-.73,1.72-2,1.95s-2.37-.3-2.52-1.14.73-1.75,2-2,2.37.29,2.53,1.16Zm0,0"></path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_blog" href="https://ncbiinsights.ncbi.nlm.nih.gov/" aria-label="Blog">
|
||
<svg xmlns="http://www.w3.org/2000/svg" id="Layer_1" data-name="Layer 1" viewBox="0 0 40 40">
|
||
<defs><style>.cls-1{fill:#737373;}</style></defs>
|
||
<title>NCBI Insights Blog</title>
|
||
<path class="cls-1" d="M14,30a4,4,0,1,1-4-4,4,4,0,0,1,4,4Zm11,3A19,19,0,0,0,7.05,15a1,1,0,0,0-1,1v3a1,1,0,0,0,.93,1A14,14,0,0,1,20,33.07,1,1,0,0,0,21,34h3a1,1,0,0,0,1-1Zm9,0A28,28,0,0,0,7,6,1,1,0,0,0,6,7v3a1,1,0,0,0,1,1A23,23,0,0,1,29,33a1,1,0,0,0,1,1h3A1,1,0,0,0,34,33Z"></path>
|
||
</svg>
|
||
</a>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
|
||
<section class="container-fluid bg-primary">
|
||
<div class="container pt-5">
|
||
<div class="row mt-3">
|
||
<div class="col-lg-3 col-12">
|
||
<p><a class="text-white" href="https://www.nlm.nih.gov/socialmedia/index.html">Connect with NLM</a></p>
|
||
<ul class="list-inline social_media">
|
||
<li class="list-inline-item"><a href="https://twitter.com/NLM_NIH" aria-label="Twitter" target="_blank" rel="noopener noreferrer">
|
||
<svg xmlns="http://www.w3.org/2000/svg" width="35" height="35" viewBox="0 0 36 35" fill="none">
|
||
<title>Twitter</title>
|
||
<g id="twitterx1009" clip-path="url(#clip0_65276_3946)">
|
||
<path id="Vector_Twitter" d="M17.5006 34.6565C26.9761 34.6565 34.6575 26.9751 34.6575 17.4996C34.6575 8.02416 26.9761 0.342773 17.5006 0.342773C8.02514 0.342773 0.34375 8.02416 0.34375 17.4996C0.34375 26.9751 8.02514 34.6565 17.5006 34.6565Z" fill="#205493" stroke="white" stroke-width="1.0" stroke-miterlimit="10"></path>
|
||
<path id="path1009" d="M8.54811 8.5L16.2698 18.4279L8.50001 26.5H11.5L17.5 20L22.5486 26.5H28.5L20.5 16L27 8.5H24.5L19 14.5L14.5007 8.5H8.54927H8.54811ZM11.1197 9.73873H13.4519L25.4519 25.2613H23.1926L11.1197 9.73873Z" fill="white"></path>
|
||
</g>
|
||
<defs>
|
||
<clipPath id="clip0_65276_3946">
|
||
<rect width="35" height="35" fill="white"></rect>
|
||
</clipPath>
|
||
</defs>
|
||
</svg>
|
||
</a></li>
|
||
<li class="list-inline-item"><a href="https://www.facebook.com/nationallibraryofmedicine" aria-label="Facebook" rel="noopener noreferrer" target="_blank">
|
||
<svg xmlns="http://www.w3.org/2000/svg" width="35" height="35" viewBox="0 0 36 35" fill="none">
|
||
<title>Facebook</title>
|
||
<g id="Facebook" clip-path="url(#clip0_1717_1086)">
|
||
<path id="Vector_Facebook" d="M15.1147 29.1371C15.1147 29.0822 15.1147 29.0296 15.1147 28.9747V18.9414H11.8183C11.6719 18.9414 11.6719 18.9414 11.6719 18.8018C11.6719 17.5642 11.6719 16.3289 11.6719 15.0937C11.6719 14.9793 11.7062 14.9518 11.816 14.9518C12.8683 14.9518 13.9206 14.9518 14.9751 14.9518H15.1215V14.8329C15.1215 13.8057 15.1215 12.774 15.1215 11.7492C15.1274 10.9262 15.3148 10.1146 15.6706 9.37241C16.1301 8.38271 16.9475 7.60378 17.9582 7.19235C18.6492 6.90525 19.3923 6.76428 20.1405 6.7783C21.0029 6.79202 21.8653 6.83091 22.7278 6.86065C22.8879 6.86065 23.048 6.89496 23.2082 6.90182C23.2974 6.90182 23.3271 6.94071 23.3271 7.02993C23.3271 7.54235 23.3271 8.05477 23.3271 8.5649C23.3271 9.16882 23.3271 9.77274 23.3271 10.3767C23.3271 10.4819 23.2974 10.5139 23.1921 10.5116C22.5379 10.5116 21.8814 10.5116 21.2271 10.5116C20.9287 10.5184 20.6316 10.5528 20.3395 10.6146C20.0822 10.6619 19.8463 10.7891 19.6653 10.9779C19.4842 11.1668 19.3672 11.4078 19.3307 11.6669C19.2857 11.893 19.2612 12.1226 19.2575 12.3531C19.2575 13.1904 19.2575 14.0299 19.2575 14.8695C19.2575 14.8946 19.2575 14.9198 19.2575 14.9564H23.0229C23.1807 14.9564 23.183 14.9564 23.1624 15.1074C23.0778 15.7662 22.9885 16.425 22.9039 17.0816C22.8322 17.6321 22.7636 18.1827 22.698 18.7332C22.6729 18.9437 22.6797 18.9437 22.4693 18.9437H19.2644V28.8992C19.2644 28.9793 19.2644 29.0593 19.2644 29.1394L15.1147 29.1371Z" fill="white"></path>
|
||
<path id="Vector_2_Facebook" d="M17.5006 34.657C26.9761 34.657 34.6575 26.9756 34.6575 17.5001C34.6575 8.02465 26.9761 0.343262 17.5006 0.343262C8.02514 0.343262 0.34375 8.02465 0.34375 17.5001C0.34375 26.9756 8.02514 34.657 17.5006 34.657Z" stroke="white" stroke-width="1.0" stroke-miterlimit="10"></path>
|
||
</g>
|
||
<defs>
|
||
<clipPath id="clip0_1717_1086">
|
||
<rect width="35" height="35" fill="white"></rect>
|
||
</clipPath>
|
||
</defs>
|
||
</svg>
|
||
</a></li>
|
||
<li class="list-inline-item"><a href="https://www.youtube.com/user/NLMNIH" aria-label="Youtube" target="_blank" rel="noopener noreferrer">
|
||
<svg xmlns="http://www.w3.org/2000/svg" width="35" height="35" viewBox="0 0 36 35" fill="none">
|
||
<title>Youtube</title>
|
||
<g id="YouTube" clip-path="url(#clip0_1717_1101)">
|
||
<path id="Vector_Youtube" d="M26.2571 11.4791C25.9025 11.1589 25.5709 10.9576 24.228 10.834C22.5512 10.6785 20.2797 10.6556 18.564 10.6533H16.4365C14.7208 10.6533 12.4493 10.6785 10.7725 10.834C9.43196 10.9576 9.09798 11.1589 8.7434 11.4791C7.81464 12.321 7.6202 14.6268 7.59961 16.8938C7.59961 17.3178 7.59961 17.741 7.59961 18.1635C7.62706 20.4121 7.82837 22.686 8.7434 23.521C9.09798 23.8412 9.42967 24.0425 10.7725 24.1661C12.4493 24.3216 14.7208 24.3445 16.4365 24.3468H18.564C20.2797 24.3468 22.5512 24.3216 24.228 24.1661C25.5686 24.0425 25.9025 23.8412 26.2571 23.521C27.1722 22.6929 27.3735 20.451 27.4009 18.2206C27.4009 17.7402 27.4009 17.2599 27.4009 16.7795C27.3735 14.5491 27.1699 12.3072 26.2571 11.4791ZM15.5604 20.5311V14.652L20.561 17.5001L15.5604 20.5311Z" fill="white"></path>
|
||
<path id="Vector_2_Youtube" d="M17.5006 34.657C26.9761 34.657 34.6575 26.9756 34.6575 17.5001C34.6575 8.02465 26.9761 0.343262 17.5006 0.343262C8.02514 0.343262 0.34375 8.02465 0.34375 17.5001C0.34375 26.9756 8.02514 34.657 17.5006 34.657Z" stroke="white" stroke-width="1.0" stroke-miterlimit="10"></path>
|
||
</g>
|
||
<defs>
|
||
<clipPath id="clip0_1717_1101">
|
||
<rect width="35" height="35" fill="white"></rect>
|
||
</clipPath>
|
||
</defs>
|
||
</svg>
|
||
</a></li>
|
||
</ul>
|
||
</div>
|
||
<div class="col-lg-3 col-12">
|
||
<p class="address_footer text-white">National Library of Medicine<br />
|
||
<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
|
||
Bethesda, MD 20894</a></p>
|
||
</div>
|
||
<div class="col-lg-3 col-12 centered-lg">
|
||
<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
|
||
<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
|
||
<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
|
||
</div>
|
||
<div class="col-lg-3 col-12 centered-lg">
|
||
<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
|
||
<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
|
||
<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
|
||
</div>
|
||
</div>
|
||
<div class="row">
|
||
<div class="col-lg-12 centered-lg">
|
||
<nav class="bottom-links">
|
||
<ul class="mt-3">
|
||
<li>
|
||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
</nav>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
<script type="text/javascript" src="/portal/portal3rc.fcgi/rlib/js/InstrumentOmnitureBaseJS/InstrumentNCBIConfigJS/InstrumentNCBIBaseJS/InstrumentPageStarterJS.js?v=1"> </script>
|
||
<script type="text/javascript" src="/portal/portal3rc.fcgi/static/js/hfjs2.js"> </script>
|
||
</div>
|
||
</div>
|
||
<!--/.footer-->
|
||
|
||
</div>
|
||
<!--/.page-->
|
||
</div>
|
||
<!--/.wrap-->
|
||
<span class="PAFAppResources"></span>
|
||
|
||
|
||
</div><!-- /.twelve_col -->
|
||
</div>
|
||
<!-- /.grid -->
|
||
|
||
|
||
|
||
<!-- usually for JS scripts at page bottom -->
|
||
<span class="pagefixtures"></span>
|
||
|
||
|
||
<!-- CE8B5AF87C7FFCB1_0191SID /projects/GTR/gtr1/gtr1@1.224 portal106 v4.1.r689238 Tue, Oct 22 2024 16:10:51 -->
|
||
<span id="portal-csrf-token" style="display:none" data-token="CE8B5AF87C7FFCB1_0191SID"></span>
|
||
|
||
<script type="text/javascript" src="//static.pubmed.gov/portal/portal3rc.fcgi/4221774/js/3879255/4121861/4052736/4171016/3898962/4114253/4216519/4209230/4076480.js" snapshot="gtr"></script></body>
|
||
</html>
|
||
|