MC4R

melanocortin 4 receptor

Summary

The protein encoded by this gene is a membrane-bound receptor and member of the melanocortin receptor family. The encoded protein interacts with adrenocorticotropic and MSH hormones and is mediated by G proteins. This is an intronless gene. Defects in this gene are a cause of autosomal dominant obesity. [provided by RefSeq, Jan 2010]

Known Variants153 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs17782313	18:57,851,097	T/C	intergenic variant	—
rs6567166	18:58,038,332	T/C	—	benign
rs17773630	18:58,038,460	A/G	downstream gene variant	—
rs751914635	18:58,038,600	A/T	—	uncertain significance
rs1413495797	18:58,038,610	G/T	—	uncertain significance
rs150448918	18:58,038,611	G/A	—	conflicting classifications of pathogenicity
rs778685158	18:58,038,634	T/A	—	uncertain significance
rs121913564	18:58,038,636	A/C	missense variant	pathogenic
rs1157656544	18:58,038,648	G/C	—	uncertain significance
rs1429906794	18:58,038,654	C/T	—	uncertain significance
rs769947520	18:58,038,668	C/T	—	likely benign
rs775382722	18:58,038,669	C/T	—	uncertain significance
rs549442687	18:58,038,670	G/A	—	conflicting classifications of pathogenicity
rs774918906	18:58,038,673	G/A	—	uncertain significance
rs767325252	18:58,038,677	A/C	—	likely pathogenic
rs1316381133	18:58,038,678	T/A	—	uncertain significance
rs1915335064	18:58,038,681	A/G	—	pathogenic
rs1326028718	18:58,038,684	A/G	—	uncertain significance
rs52804924	18:58,038,687	G/T	missense variant	pathogenic
rs2511559991	18:58,038,688	G/A	—	uncertain significance
rs201921200	18:58,038,692	G/A	—	likely benign
rs1049385311	18:58,038,693	A/T	—	uncertain significance
rs368264587	18:58,038,700	A/G	—	uncertain significance
rs765147772	18:58,038,703	T/G	—	uncertain significance
rs2511560041	18:58,038,721	G/A	—	uncertain significance
rs121917829	18:58,038,722	A/T	stop gained	pathogenic
rs1250816750	18:58,038,736	G/A	—	uncertain significance
rs2511560052	18:58,038,741	A/G	—	uncertain significance
rs756232889	18:58,038,745	A/G	—	pathogenic
rs145765578	18:58,038,746	G/A	—	likely benign
rs1915337291	18:58,038,747	C/T	—	uncertain significance
rs2511560063	18:58,038,748	A/G	—	uncertain significance
rs769342968	18:58,038,752	A/T	—	pathogenic
rs748627503	18:58,038,756	T/C	—	uncertain significance
rs121913561	18:58,038,762	T/C	missense variant	pathogenic
rs1555691353	18:58,038,766	G/A	—	likely pathogenic
rs1915338291	18:58,038,768	G/A	—	likely pathogenic
rs121913562	18:58,038,771	C/T	missense variant	pathogenic
rs1057517991	18:58,038,772	A/G	missense variant	pathogenic
rs79783591	18:58,038,777	A/T	missense variant	pathogenic
rs1435358988	18:58,038,804	G/T	—	likely pathogenic
rs762825773	18:58,038,807	G/A	—	uncertain significance
rs756424832	18:58,038,820	C/T	—	uncertain significance
rs187152753	18:58,038,826	C/T	—	uncertain significance
rs13447336	18:58,038,829	C/T	—	uncertain significance
rs52820871	18:58,038,832	T/G	missense variant	likely benign
rs772393451	18:58,038,834	A/T	—	conflicting classifications of pathogenicity
rs868309222	18:58,038,856	C/T	—	uncertain significance
rs202228712	18:58,038,864	T/C	—	uncertain significance
rs758426526	18:58,038,877	G/A	—	likely benign
rs533763458	18:58,038,890	G/A	—	likely benign
rs1363347811	18:58,038,892	C/T	—	uncertain significance
rs148026669	18:58,038,893	G/A	—	likely benign
rs747444659	18:58,038,902	A/G	—	likely benign
rs193922686	18:58,038,906	A/G	—	uncertain significance
rs121913567	18:58,038,927	G/A	missense variant	pathogenic
rs1915344558	18:58,038,928	C/A	—	uncertain significance
rs768687497	18:58,038,938	C/T	—	uncertain significance
rs141742759	18:58,038,947	A/G	—	likely benign
rs1213053983	18:58,038,952	G/C	—	uncertain significance
rs202029579	18:58,038,964	G/C	—	uncertain significance
rs138281308	18:58,038,977	G/T	—	conflicting classifications of pathogenicity
rs61741819	18:58,038,989	G/A	—	likely benign
rs1915346892	18:58,038,998	G/C	—	uncertain significance
rs748042240	18:58,039,016	A/G	—	likely benign
rs2143966570	18:58,039,034	C/G	—	uncertain significance
rs13447333	18:58,039,041	C/T	—	pathogenic
rs193922685	18:58,039,045	A/G	missense variant	pathogenic
rs146056286	18:58,039,049	C/T	—	conflicting classifications of pathogenicity
rs2511560341	18:58,039,053	C/A	—	uncertain significance
rs121913563	18:58,039,060	C/T	missense variant	pathogenic
rs121913560	18:58,039,075	T/C	missense variant	pathogenic
rs942758928	18:58,039,087	C/T	—	conflicting classifications of pathogenicity
rs868660454	18:58,039,088	C/T	—	uncertain significance
rs747681609	18:58,039,089	C/T	missense variant	pathogenic
rs13447332	18:58,039,090	G/A	—	pathogenic
rs2511560400	18:58,039,096	C/T	—	uncertain significance
rs1555691402	18:58,039,098	G/A	—	conflicting classifications of pathogenicity
rs776431890	18:58,039,109	A/G	—	likely benign
rs144393256	18:58,039,115	C/T	—	likely benign
rs1253353185	18:58,039,116	T/G	—	uncertain significance
rs369841551	18:58,039,117	G/A	—	pathogenic
rs761855498	18:58,039,122	G/A	—	uncertain significance
rs766665118	18:58,039,134	G/A	—	conflicting classifications of pathogenicity
rs2143966795	18:58,039,146	T/A	—	uncertain significance
rs754646857	18:58,039,147	C/T	—	uncertain significance
rs2511560480	18:58,039,161	A/C	—	uncertain significance
rs2511560489	18:58,039,164	A/G	—	uncertain significance
rs151102515	18:58,039,173	A/G	—	uncertain significance
rs1380965800	18:58,039,176	G/A	—	pathogenic
rs140773238	18:58,039,178	T/G	—	conflicting classifications of pathogenicity
rs2511560507	18:58,039,180	C/G	—	uncertain significance
rs13447331	18:58,039,203	G/A	missense variant	pathogenic
rs1598932263	18:58,039,210	T/C	—	uncertain significance
rs761982475	18:58,039,215	T/C	—	conflicting classifications of pathogenicity
rs13447329	18:58,039,248	G/A	—	conflicting classifications of pathogenicity
rs2229616	18:58,039,276	C/T	missense variant	benign
rs121913559	18:58,039,278	A/C	missense variant	pathogenic
rs2511560654	18:58,039,286	T/C	—	likely benign
rs121913565	18:58,039,294	T/C	missense variant	pathogenic

Showing 100 of 153 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.