AMH

anti-Mullerian hormone

Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate N- and C-terminal cleavage products that homodimerize and associate to form a biologically active noncovalent complex. This complex binds to the anti-Mullerian hormone receptor type 2 and causes the regression of Mullerian ducts in the male embryo that would otherwise differentiate into the uterus and fallopian tubes. This protein also plays a role in Leydig cell differentiation and function and follicular development in adult females. Mutations in this gene result in persistent Mullerian duct syndrome. [provided by RefSeq, Jul 2016]

Known Variants143 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3761018	19:2,248,882	A/G	—	benign
rs10406324	19:2,249,112	G/A	—	benign
rs767665662	19:2,249,336	G/A	—	conflicting classifications of pathogenicity
rs145122767	19:2,249,354	G/C	—	uncertain significance
rs1179977361	19:2,249,356	C/A	—	uncertain significance
rs149082963	19:2,249,366	T/G	—	uncertain significance
rs749214406	19:2,249,383	G/A	—	uncertain significance
rs61736578	19:2,249,384	C/T	—	likely benign
rs142456399	19:2,249,407	A/G	—	uncertain significance
rs768909669	19:2,249,459	T/C	—	uncertain significance
rs61736571	19:2,249,460	G/A	—	likely benign
rs148294311	19:2,249,467	C/G	—	uncertain significance
rs766630178	19:2,249,468	C/A	—	uncertain significance
rs10407022	19:2,249,477	G/T	missense variant	benign
rs150481705	19:2,249,497	C/T	—	likely benign
rs573689958	19:2,249,505	A/G	—	likely benign
rs138350437	19:2,249,511	C/T	—	likely benign
rs199615794	19:2,249,558	T/C	—	uncertain significance
rs749993067	19:2,249,563	G/A	—	uncertain significance
rs751285750	19:2,249,582	T/A	—	uncertain significance
rs61736572	19:2,249,583	G/A	—	benign
rs776141279	19:2,249,604	C/T	—	likely benign
rs530771511	19:2,249,611	C/T	—	uncertain significance
rs376204259	19:2,249,612	C/T	—	uncertain significance
rs200226465	19:2,249,626	A/T	—	uncertain significance
rs147472740	19:2,249,631	C/T	—	benign
rs61736575	19:2,249,634	G/A	—	benign
rs200289507	19:2,249,635	G/A	—	benign
rs182295886	19:2,249,647	G/A	missense variant	benign
rs2512010969	19:2,249,671	T/C	—	uncertain significance
rs371130597	19:2,249,677	C/T	—	uncertain significance
rs752375222	19:2,249,680	C/T	—	uncertain significance
rs185020288	19:2,249,681	G/A	—	likely benign
rs537290157	19:2,249,699	G/A	—	benign
rs1248755838	19:2,249,727	C/T	—	likely benign
rs775494830	19:2,249,730	A/G	—	likely benign
rs77671243	19:2,250,236	A/G	—	benign
rs139265145	19:2,250,351	C/T	—	likely benign
rs951526274	19:2,250,353	C/G	—	uncertain significance
rs201367909	19:2,250,361	G/A	—	likely benign
rs374588581	19:2,250,389	G/A	—	conflicting classifications of pathogenicity
rs751597455	19:2,250,393	G/A	—	likely benign
rs756662915	19:2,250,401	G/C	—	uncertain significance
rs371874189	19:2,250,423	A/G	—	pathogenic
rs768050453	19:2,250,425	C/A	—	uncertain significance
rs17854573	19:2,250,469	A/G	—	benign
rs200523942	19:2,250,476	C/G	—	likely benign
rs774430982	19:2,250,479	G/T	—	pathogenic
rs8112524	19:2,250,528	A/G	—	benign
rs2025018868	19:2,250,658	G/A	—	pathogenic
rs104894666	19:2,250,666	C/T	stop gained	pathogenic
rs764521397	19:2,250,670	A/G	—	uncertain significance
rs777003373	19:2,250,675	C/T	—	uncertain significance
rs752186483	19:2,250,699	C/T	—	uncertain significance
rs755678822	19:2,250,702	C/T	—	uncertain significance
rs558720829	19:2,250,711	G/C	—	uncertain significance
rs2145028843	19:2,250,738	A/G	—	uncertain significance
rs1183532981	19:2,250,744	C/T	—	pathogenic
rs768713502	19:2,250,751	G/A	—	uncertain significance
rs1157714633	19:2,250,766	C/G	—	likely benign
rs375682358	19:2,250,779	G/A	—	benign
rs1208655844	19:2,250,851	C/T	—	uncertain significance
rs559950177	19:2,250,889	G/C	—	uncertain significance
rs1336466921	19:2,250,895	G/C	—	uncertain significance
rs750351723	19:2,250,949	G/C	—	uncertain significance
rs2512012971	19:2,250,965	C/T	—	uncertain significance
rs758383760	19:2,250,972	C/T	—	likely benign
rs201324658	19:2,250,985	A/G	—	uncertain significance
rs2512013010	19:2,250,986	C/T	—	uncertain significance
rs757506343	19:2,250,991	C/T	—	likely benign
rs774808404	19:2,251,017	G/C	—	likely benign
rs777960142	19:2,251,084	A/T	—	likely benign
rs749401185	19:2,251,086	T/G	—	benign
rs371054070	19:2,251,088	C/T	—	likely benign
rs746431360	19:2,251,101	A/G	—	likely benign
rs1344990945	19:2,251,104	C/G	—	likely benign
rs201779218	19:2,251,107	G/A	—	benign
rs747809683	19:2,251,122	G/A	—	likely benign
rs1269256449	19:2,251,125	A/G	—	likely benign
rs199831511	19:2,251,137	C/G	—	conflicting classifications of pathogenicity
rs765937994	19:2,251,143	C/T	—	likely benign
rs536688211	19:2,251,178	G/A	—	conflicting classifications of pathogenicity
rs758405250	19:2,251,179	G/A	—	likely benign
rs1355044458	19:2,251,188	G/C	—	likely benign
rs1257988198	19:2,251,205	C/T	—	uncertain significance
rs548613810	19:2,251,208	G/A	—	uncertain significance
rs566806768	19:2,251,223	C/G	—	conflicting classifications of pathogenicity
rs534325383	19:2,251,229	C/T	—	likely benign
rs1343943519	19:2,251,234	G/A	—	uncertain significance
rs577002391	19:2,251,240	T/C	—	uncertain significance
rs140765565	19:2,251,247	A/G	—	likely benign
rs556078854	19:2,251,264	T/C	—	conflicting classifications of pathogenicity
rs759477280	19:2,251,268	A/G	—	uncertain significance
rs775298247	19:2,251,287	C/T	—	likely benign
rs1012178126	19:2,251,289	T/C	—	likely pathogenic
rs1164092360	19:2,251,306	C/T	—	uncertain significance
rs764049634	19:2,251,327	C/T	—	uncertain significance
rs994991215	19:2,251,332	T/G	—	likely benign
rs985697346	19:2,251,356	G/A	—	likely benign
rs1336544836	19:2,251,370	C/G	—	uncertain significance

Showing 100 of 143 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.