LHCGR

luteinizing hormone/choriogonadotropin receptor

Summary

This gene encodes the receptor for both luteinizing hormone and choriogonadotropin. This receptor belongs to the G-protein coupled receptor 1 family, and its activity is mediated by G proteins which activate adenylate cyclase. Mutations in this gene result in disorders of male secondary sexual character development, including familial male precocious puberty, also known as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell adenoma with precocious puberty, and male pseudohermaphtoditism with Leydig cell hypoplasia. [provided by RefSeq, Jul 2008]

Known Variants213 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1572798605	2:48,913,942	C/A	—	uncertain significance
rs1186633571	2:48,914,031	T/C	—	uncertain significance
rs894998962	2:48,914,089	G/T	—	uncertain significance
rs886056145	2:48,914,112	A/G	—	uncertain significance
rs1679924403	2:48,914,126	T/C	—	uncertain significance
rs542577446	2:48,914,259	A/T	—	conflicting classifications of pathogenicity
rs753509070	2:48,914,283	T/A	—	uncertain significance
rs534109670	2:48,914,301	C/T	—	likely benign
rs73928203	2:48,914,308	A/G	—	benign
rs564632841	2:48,914,324	G/A	—	conflicting classifications of pathogenicity
rs886110093	2:48,914,393	G/A	—	uncertain significance
rs1679939498	2:48,914,422	A/G	—	uncertain significance
rs777978092	2:48,914,453	G/T	—	uncertain significance
rs10495956	2:48,914,476	C/T	—	benign
rs771456886	2:48,914,536	A/T	—	uncertain significance
rs886056146	2:48,914,563	A/G	—	uncertain significance
rs62137532	2:48,914,615	C/G	—	benign
rs1268210330	2:48,914,644	A/G	—	uncertain significance
rs1266628357	2:48,914,654	A/G	—	uncertain significance
rs79248442	2:48,914,688	A/G	—	benign
rs73928204	2:48,914,705	G/A	—	likely benign
rs192235905	2:48,914,814	A/C	—	likely benign
rs200256443	2:48,914,829	G/A	—	conflicting classifications of pathogenicity
rs778585416	2:48,914,841	A/T	—	conflicting classifications of pathogenicity
rs148244033	2:48,914,845	T/A	—	conflicting classifications of pathogenicity
rs1387925619	2:48,914,864	A/G	—	uncertain significance
rs369169911	2:48,914,871	C/T	—	uncertain significance
rs199807908	2:48,914,934	T/G	—	conflicting classifications of pathogenicity
rs775694746	2:48,914,937	A/G	—	uncertain significance
rs764444931	2:48,914,965	T/C	—	likely benign
rs61996315	2:48,914,983	A/G	—	conflicting classifications of pathogenicity
rs201964457	2:48,915,000	G/A	—	uncertain significance
rs149766676	2:48,915,020	C/T	—	conflicting classifications of pathogenicity
rs200691173	2:48,915,061	T/A	—	likely benign
rs121912530	2:48,915,062	A/T	missense variant	pathogenic
rs144859947	2:48,915,067	A/C	—	pathogenic
rs1431751529	2:48,915,068	T/G	—	uncertain significance
rs1325590280	2:48,915,072	G/T	—	uncertain significance
rs121912525	2:48,915,089	G/T	missense variant	pathogenic
rs780861577	2:48,915,117	A/C	—	uncertain significance
rs756089036	2:48,915,131	G/A	—	uncertain significance
rs143697410	2:48,915,139	G/T	—	conflicting classifications of pathogenicity
rs748387075	2:48,915,149	A/C	—	uncertain significance
rs121912520	2:48,915,159	C/G	missense variant	pathogenic
rs377665383	2:48,915,184	A/G	—	conflicting classifications of pathogenicity
rs121912518	2:48,915,203	T/C	missense variant	pathogenic
rs121912532	2:48,915,204	C/G	missense variant	pathogenic
rs121912521	2:48,915,206	G/A	missense variant	pathogenic
rs767343825	2:48,915,213	T/G	—	pathogenic
rs121912522	2:48,915,221	G/A	missense variant	pathogenic
rs121912519	2:48,915,223	C/T	missense variant	pathogenic
rs121912534	2:48,915,233	G/A	missense variant	pathogenic
rs121912540	2:48,915,245	T/C	missense variant	pathogenic
rs146785679	2:48,915,267	C/T	—	likely benign
rs121912524	2:48,915,276	G/A	stop gained	pathogenic
rs121912523	2:48,915,301	G/T	stop gained	pathogenic
rs121912537	2:48,915,309	A/G	missense variant	pathogenic
rs121912531	2:48,915,312	T/G	missense variant	pathogenic
rs1331743516	2:48,915,346	G/T	—	likely benign
rs184344702	2:48,915,410	A/G	—	uncertain significance
rs1680008553	2:48,915,416	T/C	—	uncertain significance
rs377391010	2:48,915,426	C/T	—	uncertain significance
rs121912538	2:48,915,431	A/G	missense variant	pathogenic
rs1064796476	2:48,915,465	A/G	missense variant	pathogenic
rs1680012844	2:48,915,470	C/A	—	uncertain significance
rs757225917	2:48,915,501	G/A	—	pathogenic
rs1215419179	2:48,915,530	G/A	—	uncertain significance
rs200275286	2:48,915,561	C/T	—	uncertain significance
rs776179025	2:48,915,562	G/A	—	likely benign
rs121912535	2:48,915,566	A/C	missense variant	pathogenic
rs114320052	2:48,915,576	C/T	—	conflicting classifications of pathogenicity
rs763889232	2:48,915,591	C/T	—	uncertain significance
rs2529700494	2:48,915,612	C/T	—	uncertain significance
rs1235911438	2:48,915,614	G/A	—	uncertain significance
rs781308880	2:48,915,628	C/T	—	uncertain significance
rs189474766	2:48,915,673	T/A	—	uncertain significance
rs181132146	2:48,915,677	G/A	—	uncertain significance
rs138309348	2:48,915,712	C/T	—	uncertain significance
rs1463882026	2:48,915,734	A/G	—	uncertain significance
rs121912526	2:48,915,743	A/G	missense variant	pathogenic
rs2529701490	2:48,915,753	G/A	—	uncertain significance
rs1394300572	2:48,915,758	A/C	—	likely pathogenic
rs549696399	2:48,915,767	T/C	—	conflicting classifications of pathogenicity
rs2104356754	2:48,915,786	G/T	—	uncertain significance
rs371488292	2:48,915,797	A/G	—	uncertain significance
rs121912528	2:48,915,818	G/A	missense variant	pathogenic
rs115267374	2:48,915,823	A/G	—	benign
rs121912533	2:48,915,833	A/G	missense variant	pathogenic
rs994667830	2:48,915,839	A/G	—	uncertain significance
rs74447072	2:48,915,841	C/A	—	likely benign
rs11125179	2:48,915,871	A/G	—	benign
rs121912529	2:48,915,876	C/T	missense variant	pathogenic
rs1261577764	2:48,915,879	A/G	—	uncertain significance
rs370010927	2:48,915,905	G/T	—	uncertain significance
rs121912536	2:48,915,909	A/T	missense variant	pathogenic
rs149957775	2:48,915,911	C/T	—	likely benign
rs2529702630	2:48,915,913	G/A	—	likely benign
rs61996314	2:48,915,926	A/G	—	likely benign
rs1680042817	2:48,915,943	A/T	—	likely pathogenic
rs7589348	2:48,916,101	C/T	—	benign

Showing 100 of 213 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.