DMD

dystrophin

Summary

This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]

Known Variants5,955 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2031932105	X:31,137,451	A/C	—	uncertain significance
rs188558013	X:31,137,473	C/T	—	likely benign
rs901774706	X:31,137,708	C/T	—	uncertain significance
rs1057515853	X:31,137,722	A/G	—	uncertain significance
rs746158689	X:31,137,768	G/A	—	conflicting classifications of pathogenicity
rs916737131	X:31,137,933	A/T	—	uncertain significance
rs72466523	X:31,137,997	G/T	—	likely benign
rs997378803	X:31,138,119	C/T	—	uncertain significance
rs16989350	X:31,138,237	C/A	—	benign
rs7886658	X:31,138,253	T/C	—	benign
rs3198427	X:31,138,305	T/G	—	benign
rs145632098	X:31,138,331	T/C	—	likely benign
rs142520583	X:31,138,398	T/C	—	benign
rs191747923	X:31,138,581	G/T	—	likely benign
rs3361	X:31,138,589	T/C	—	benign
rs764825924	X:31,138,687	A/C	—	uncertain significance
rs1057515858	X:31,138,697	C/G	—	uncertain significance
rs142110702	X:31,138,751	G/T	—	benign
rs1057515860	X:31,138,987	A/G	—	uncertain significance
rs112754560	X:31,139,001	T/C	—	likely benign
rs112666076	X:31,139,005	C/T	—	uncertain significance
rs111354150	X:31,139,013	C/T	—	uncertain significance
rs905224596	X:31,139,031	A/C	—	uncertain significance
rs150236690	X:31,139,181	C/T	—	likely benign
rs934447597	X:31,139,188	G/A	—	uncertain significance
rs138956803	X:31,139,227	G/A	—	benign
rs1057515863	X:31,139,332	G/A	—	uncertain significance
rs192963364	X:31,139,465	T/C	—	likely benign
rs2032491980	X:31,139,531	T/C	—	uncertain significance
rs45549534	X:31,139,547	G/A	—	conflicting classifications of pathogenicity
rs764294071	X:31,139,559	A/G	—	likely benign
rs955717911	X:31,139,799	A/G	—	uncertain significance
rs2032592904	X:31,139,818	C/T	—	uncertain significance
rs1057515866	X:31,139,844	C/T	—	uncertain significance
rs1057520501	X:31,139,977	G/T	—	likely benign
rs371730838	X:31,139,997	T/A	—	likely benign
rs16989352	X:31,139,998	C/T	—	benign
rs752098195	X:31,140,004	G/A	—	likely benign
rs372284841	X:31,140,012	C/T	—	uncertain significance
rs149405184	X:31,140,021	T/C	—	likely benign
rs1464917165	X:31,140,040	A/G	—	uncertain significance
rs1462215447	X:31,140,042	T/C	—	likely benign
rs2519034646	X:31,140,050	G/A	—	uncertain significance
rs2519034730	X:31,140,052	A/G	—	likely benign
rs2519034936	X:31,140,057	A/G	—	likely benign
rs2519035077	X:31,140,059	A/G	—	likely benign
rs2032655617	X:31,140,061	A/C	—	likely benign
rs436628	X:31,140,296	T/A	—	benign
rs72466532	X:31,144,640	T/C	—	benign
rs763743278	X:31,144,719	A/G	—	benign
rs398123850	X:31,144,740	G/T	—	likely benign
rs2147665235	X:31,144,741	A/C	—	likely benign
rs754992621	X:31,144,748	A/G	—	likely benign
rs2519115275	X:31,144,749	T/C	—	likely benign
rs2147665463	X:31,144,750	C/T	—	likely benign
rs2519115447	X:31,144,757	A/G	—	likely pathogenic
rs2519115493	X:31,144,758	C/T	—	uncertain significance
rs2519115577	X:31,144,760	T/A	—	uncertain significance
rs1177428396	X:31,144,761	C/G	—	uncertain significance
rs1477369230	X:31,144,764	T/A	—	uncertain significance
rs2147665754	X:31,144,774	T/C	—	likely benign
rs2519115957	X:31,144,775	C/T	—	uncertain significance
rs1569297977	X:31,144,778	G/A	—	uncertain significance
rs768016083	X:31,144,782	T/C	—	uncertain significance
rs398123849	X:31,144,783	A/C	—	uncertain significance
rs1795743	X:31,144,787	C/T	—	uncertain significance
rs1601969201	X:31,144,793	T/C	—	uncertain significance
rs753104670	X:31,144,795	A/T	—	conflicting classifications of pathogenicity
rs376389808	X:31,144,800	T/C	—	likely benign
rs1040182952	X:31,144,801	A/G	—	likely benign
rs760289644	X:31,144,802	G/C	—	likely benign
rs2519116919	X:31,144,806	G/C	—	likely benign
rs752922996	X:31,144,808	G/A	—	likely benign
rs57414527	X:31,151,937	T/C	—	benign
rs2519230557	X:31,152,202	T/C	—	likely benign
rs745378904	X:31,152,204	G/A	—	likely benign
rs2519230808	X:31,152,207	A/G	—	likely benign
rs2519230873	X:31,152,208	T/C	—	likely benign
rs2147773906	X:31,152,209	T/G	—	likely benign
rs1298765698	X:31,152,211	G/A	—	likely benign
rs2519230973	X:31,152,212	A/G	—	likely benign
rs1437773098	X:31,152,213	G/A	—	uncertain significance
rs2147774126	X:31,152,230	G/C	—	uncertain significance
rs2147774145	X:31,152,232	G/A	—	likely benign
rs899459235	X:31,152,235	G/A	—	likely benign
rs1360899530	X:31,152,238	G/A	—	likely benign
rs1174073521	X:31,152,241	G/A	—	likely benign
rs2519231797	X:31,152,252	C/T	—	uncertain significance
rs2034871943	X:31,152,254	A/C	—	uncertain significance
rs746893659	X:31,152,255	T/C	—	uncertain significance
rs768532317	X:31,152,258	C/T	—	conflicting classifications of pathogenicity
rs886044592	X:31,152,262	C/G	—	uncertain significance
rs2147774607	X:31,152,264	C/T	—	uncertain significance
rs1255987524	X:31,152,265	T/C	—	likely benign
rs776282633	X:31,152,269	C/G	—	uncertain significance
rs2034876653	X:31,152,272	G/T	—	uncertain significance
rs1131691998	X:31,152,278	G/C	—	uncertain significance
rs1168987353	X:31,152,280	G/A	—	likely benign
rs766599250	X:31,152,282	C/T	—	conflicting classifications of pathogenicity
rs2519232797	X:31,152,291	G/A	—	uncertain significance

Showing 100 of 5,955 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.