AMHR2

anti-Mullerian hormone receptor type 2

Summary

This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2009]

Known Variants103 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7970368	12:53,815,974	T/G	upstream gene variant	—
rs2002555	12:53,817,237	A/G	upstream gene variant	—
rs2136937857	12:53,817,721	G/A	—	pathogenic
rs2498840528	12:53,817,741	G/C	—	uncertain significance
rs748130941	12:53,817,781	G/C	—	likely benign
rs2272002	12:53,817,916	T/A	—	benign
rs784894	12:53,817,956	C/A	—	benign
rs756301317	12:53,818,077	C/G	—	likely pathogenic
rs755196112	12:53,818,086	C/T	—	pathogenic
rs374943863	12:53,818,119	C/T	—	conflicting classifications of pathogenicity
rs553240253	12:53,818,183	G/A	—	uncertain significance
rs574868905	12:53,818,192	A/G	—	uncertain significance
rs201113794	12:53,818,193	C/T	—	benign
rs371910684	12:53,818,198	G/A	—	likely benign
rs1416344068	12:53,818,225	C/A	—	uncertain significance
rs115737603	12:53,818,227	C/G	—	uncertain significance
rs200109472	12:53,818,233	C/A	—	likely benign
rs767061692	12:53,818,234	G/A	—	likely benign
rs368257761	12:53,818,241	G/A	—	likely benign
rs763798144	12:53,818,255	G/A	—	pathogenic
rs978844595	12:53,818,272	T/C	—	likely benign
rs784893	12:53,818,287	A/G	—	benign
rs771456549	12:53,818,497	C/T	—	likely benign
rs376565347	12:53,818,498	C/T	—	pathogenic
rs552083814	12:53,818,582	A/C	—	uncertain significance
rs2136943263	12:53,818,615	A/G	—	likely pathogenic
rs2498855933	12:53,818,616	A/C	—	uncertain significance
rs377707786	12:53,818,676	C/T	—	uncertain significance
rs2071557	12:53,818,920	C/T	—	benign
rs374601719	12:53,819,026	G/A	missense variant	pathogenic
rs368168108	12:53,819,036	C/T	—	likely benign
rs145761355	12:53,819,239	C/T	—	likely benign
rs35355410	12:53,819,243	G/C	—	likely benign
rs1182853719	12:53,819,251	G/A	—	likely pathogenic
rs2498867313	12:53,819,283	C/T	—	uncertain significance
rs372745663	12:53,819,331	G/C	—	uncertain significance
rs2071558	12:53,819,467	C/T	—	benign
rs138904291	12:53,819,508	C/T	—	likely benign
rs142124054	12:53,819,509	G/C	—	uncertain significance
rs2498871448	12:53,819,512	C/G	—	uncertain significance
rs770410518	12:53,819,546	T/G	—	uncertain significance
rs116317145	12:53,819,552	C/T	—	conflicting classifications of pathogenicity
rs762077507	12:53,819,558	C/A	—	uncertain significance
rs2498872955	12:53,819,582	G/A	—	uncertain significance
rs536389361	12:53,819,596	C/A	—	uncertain significance
rs115267458	12:53,819,613	C/T	—	likely benign
rs746905091	12:53,819,626	C/T	—	pathogenic
rs2136949663	12:53,819,629	T/A	—	uncertain significance
rs748586967	12:53,819,659	C/T	—	uncertain significance
rs11614010	12:53,820,037	T/C	—	benign
rs3741664	12:53,822,670	G/A	—	benign
rs2498903879	12:53,822,722	G/C	—	uncertain significance
rs142812586	12:53,822,730	C/T	—	benign
rs1160955760	12:53,822,745	G/A	—	likely benign
rs784892	12:53,822,884	G/A	—	benign
rs784891	12:53,822,992	T/C	—	benign
rs565158827	12:53,823,237	G/A	—	uncertain significance
rs2498911420	12:53,823,254	A/G	—	uncertain significance
rs781745214	12:53,823,263	C/T	—	pathogenic
rs1357328922	12:53,823,282	A/G	—	uncertain significance
rs374038746	12:53,823,293	C/T	—	conflicting classifications of pathogenicity
rs784890	12:53,823,307	G/A	—	benign
rs753455307	12:53,823,323	C/T	—	likely benign
rs1555202628	12:53,823,331	T/G	—	likely benign
rs993767229	12:53,823,370	G/T	—	uncertain significance
rs766488520	12:53,823,415	T/C	—	likely pathogenic
rs748415300	12:53,823,598	C/T	—	likely benign
rs567226789	12:53,823,599	G/A	—	likely benign
rs143500484	12:53,823,612	C/T	—	likely benign
rs1939958620	12:53,823,633	A/G	—	uncertain significance
rs769617823	12:53,823,690	C/T	—	pathogenic
rs137853104	12:53,823,691	G/A	missense variant	pathogenic
rs777902651	12:53,823,742	G/A	—	uncertain significance
rs747203537	12:53,823,754	T/G	—	uncertain significance
rs200284824	12:53,823,773	G/A	—	likely benign
rs773854832	12:53,823,936	G/A	—	uncertain significance
rs1939990319	12:53,823,938	C/T	—	uncertain significance
rs2498922382	12:53,823,981	C/T	—	pathogenic
rs2498922450	12:53,823,987	C/T	—	uncertain significance
rs1301117788	12:53,824,023	G/T	—	uncertain significance
rs374247138	12:53,824,028	C/T	missense variant	pathogenic
rs757385870	12:53,824,052	C/T	—	likely benign
rs767904039	12:53,824,053	G/A	—	pathogenic
rs779833669	12:53,824,061	G/A	—	likely benign
rs749197046	12:53,824,065	C/T	—	uncertain significance
rs778710514	12:53,824,083	G/C	—	likely benign
rs11170555	12:53,824,143	A/G	—	benign
rs784889	12:53,824,408	C/T	—	benign
rs784888	12:53,824,508	G/A	—	—
rs12368222	12:53,824,744	A/G	—	benign
rs766214800	12:53,824,964	C/T	—	uncertain significance
rs749715622	12:53,825,018	C/T	—	uncertain significance
rs1313418437	12:53,825,039	C/T	—	pathogenic
rs772294564	12:53,825,045	C/T	—	pathogenic
rs1412432973	12:53,825,046	G/A	—	likely pathogenic
rs745474429	12:53,825,126	G/C	—	uncertain significance
rs115409230	12:53,825,161	C/A	—	likely benign
rs142064656	12:53,825,169	G/C	—	uncertain significance
rs144262887	12:53,825,178	G/A	—	likely benign
rs186932722	12:53,825,182	T/A	—	uncertain significance

Showing 100 of 103 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.