MDC1

mediator of DNA damage checkpoint 1

Summary

The protein encoded by this gene contains an N-terminal forkhead domain, two BRCA1 C-terminal (BRCT) motifs and a central domain with 13 repetitions of an approximately 41-amino acid sequence. The encoded protein is required to activate the intra-S phase and G2/M phase cell cycle checkpoints in response to DNA damage. This nuclear protein interacts with phosphorylated histone H2AX near sites of DNA double-strand breaks through its BRCT motifs, and facilitates recruitment of the ATM kinase and meiotic recombination 11 protein complex to DNA damage foci. [provided by RefSeq, Jul 2008]

Known Variants103 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs9468812	6:30,668,374	G/A	—	benign
rs115448006	6:30,669,268	G/T	upstream gene variant	—
rs9262149	6:30,669,972	G/A	upstream gene variant	—
rs768990928	6:30,670,542	C/T	—	uncertain significance
rs560973662	6:30,670,548	C/T	—	likely benign
rs764807291	6:30,670,564	C/T	—	uncertain significance
rs761516200	6:30,670,951	C/T	—	uncertain significance
rs773668966	6:30,670,952	G/A	—	uncertain significance
rs2535194738	6:30,670,999	A/G	—	uncertain significance
rs145685809	6:30,671,206	T/C	—	benign
rs28994875	6:30,671,229	C/T	—	benign
rs376836775	6:30,671,244	C/T	—	likely benign
rs925658895	6:30,671,416	C/G	—	uncertain significance
rs192518449	6:30,671,526	T/C	—	uncertain significance
rs368708770	6:30,671,528	C/T	—	uncertain significance
rs147739737	6:30,671,606	G/A	—	uncertain significance
rs537599593	6:30,671,640	C/T	—	uncertain significance
rs761891726	6:30,671,667	C/T	—	uncertain significance
rs368208651	6:30,671,717	G/A	—	uncertain significance
rs376172465	6:30,671,747	T/A	—	likely benign
rs375555569	6:30,671,828	G/T	—	uncertain significance
rs187724951	6:30,671,881	C/T	—	likely benign
rs759278911	6:30,671,883	G/A	—	uncertain significance
rs28986317	6:30,671,989	G/T	synonymous variant	—
rs150844480	6:30,672,036	T/G	—	uncertain significance
rs770716446	6:30,672,059	G/A	—	uncertain significance
rs1437663975	6:30,672,063	G/A	—	uncertain significance
rs774976533	6:30,672,098	G/A	—	uncertain significance
rs925969977	6:30,672,134	G/A	—	uncertain significance
rs996502128	6:30,672,212	G/A	—	uncertain significance
rs1440674600	6:30,672,284	C/T	—	uncertain significance
rs140008669	6:30,672,300	G/A	—	uncertain significance
rs767273130	6:30,672,308	G/A	—	uncertain significance
rs3130645	6:30,672,342	A/G	missense variant	—
rs1381381300	6:30,672,477	C/T	—	uncertain significance
rs2535516002	6:30,672,552	T/A	—	uncertain significance
rs142364168	6:30,672,567	C/G	—	uncertain significance
rs2535531146	6:30,672,624	C/T	—	uncertain significance
rs377664869	6:30,672,684	G/T	—	uncertain significance
rs144566920	6:30,672,792	G/A	—	uncertain significance
rs143939012	6:30,672,923	G/A	—	uncertain significance
rs773159154	6:30,672,926	T/C	—	uncertain significance
rs770413545	6:30,672,933	T/C	—	uncertain significance
rs757297592	6:30,672,971	G/A	—	uncertain significance
rs144657716	6:30,673,064	C/T	—	benign
rs745416087	6:30,673,100	G/A	—	uncertain significance
rs150032668	6:30,673,107	C/T	—	uncertain significance
rs145576697	6:30,673,132	G/A	—	benign
rs138062977	6:30,673,177	A/G	—	likely benign
rs143042499	6:30,673,186	C/T	—	likely benign
rs1328038423	6:30,673,211	A/G	—	uncertain significance
rs1773616858	6:30,673,212	G/A	—	uncertain significance
rs1266600648	6:30,673,223	G/A	—	likely benign
rs114458930	6:30,673,288	G/T	—	benign
rs1482042573	6:30,673,299	A/G	—	likely benign
rs144700924	6:30,673,340	A/G	—	likely benign
rs149535951	6:30,673,351	C/G	—	benign
rs143258964	6:30,673,359	T/G	—	benign
rs751203082	6:30,673,556	T/A	—	uncertain significance
rs563004937	6:30,673,578	G/A	—	uncertain significance
rs754275727	6:30,673,707	C/T	—	likely benign
rs61733207	6:30,673,724	C/T	—	uncertain significance
rs774126007	6:30,673,769	G/A	—	uncertain significance
rs779002074	6:30,673,826	G/A	—	uncertain significance
rs541015349	6:30,673,862	G/A	—	uncertain significance
rs753904353	6:30,675,417	G/A	—	uncertain significance
rs776398578	6:30,675,426	G/A	—	uncertain significance
rs766643302	6:30,675,512	T/G	—	uncertain significance
rs138119404	6:30,675,526	T/C	—	uncertain significance
rs772732783	6:30,675,571	C/A	—	likely benign
rs574415948	6:30,675,618	T/C	—	uncertain significance
rs1381166135	6:30,675,936	C/A	—	likely benign
rs1297842399	6:30,676,027	G/T	—	uncertain significance
rs2535925624	6:30,676,117	A/G	—	uncertain significance
rs2536074175	6:30,679,212	G/A	—	uncertain significance
rs3094093	6:30,679,628	T/A	intron variant	—
rs2844707	6:30,679,963	A/C	—	benign
rs756563739	6:30,679,977	G/T	—	uncertain significance
rs527899153	6:30,679,996	C/T	—	uncertain significance
rs2536169808	6:30,680,105	T/C	—	likely benign
rs28642200	6:30,680,298	T/C	—	uncertain significance
rs768492451	6:30,680,345	C/A	—	uncertain significance
rs1775080299	6:30,680,404	C/A	—	uncertain significance
rs753023149	6:30,680,407	G/A	—	uncertain significance
rs540952172	6:30,680,464	G/T	—	uncertain significance
rs760663106	6:30,680,476	T/G	—	uncertain significance
rs200239032	6:30,680,595	C/A	—	uncertain significance
rs756241688	6:30,680,628	G/A	—	uncertain significance
rs2517561	6:30,680,639	A/G	—	benign
rs1168411055	6:30,680,643	C/A	—	uncertain significance
rs144987547	6:30,680,658	T/C	—	uncertain significance
rs141968634	6:30,680,707	T/A	—	uncertain significance
rs143800710	6:30,680,708	C/A	—	uncertain significance
rs765560793	6:30,680,736	T/C	—	uncertain significance
rs2536242470	6:30,680,746	C/T	—	uncertain significance
rs2517560	6:30,680,968	C/T	—	benign
rs766077997	6:30,681,082	C/T	—	uncertain significance
rs756890775	6:30,681,476	C/T	—	likely benign
rs751055479	6:30,681,615	C/T	—	uncertain significance
rs61748587	6:30,681,756	C/T	—	uncertain significance

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

Gene information from NCBI Gene. Variant classifications from ClinVar.