DAG1

dystroglycan 1

Summary

This gene encodes dystroglycan, a central component of dystrophin-glycoprotein complex that links the extracellular matrix and the cytoskeleton in the skeletal muscle. The encoded preproprotein undergoes O- and N-glycosylation, and proteolytic processing to generate alpha and beta subunits. Certain mutations in this gene are known to cause distinct forms of muscular dystrophy. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Nov 2015]

Known Variants585 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs6797164	3:49,506,299	C/T	—	benign
rs992005563	3:49,506,489	G/T	—	uncertain significance
rs4855840	3:49,507,512	T/G	—	benign
rs4855839	3:49,507,847	G/A	—	benign
rs1016898456	3:49,507,853	C/T	—	likely benign
rs7611164	3:49,508,828	T/G	regulatory region variant	—
rs7647973	3:49,510,931	G/A	regulatory region variant	—
rs139212261	3:49,514,535	A/G	—	likely benign
rs201524952	3:49,520,651	C/G	—	—
rs7630869	3:49,522,543	C/G	—	—
rs6783003	3:49,524,778	G/C	—	benign
rs9818590	3:49,525,096	A/G	—	benign
rs111327216	3:49,525,218	C/T	intron variant	—
rs11719996	3:49,525,958	T/C	—	benign
rs4855861	3:49,525,962	G/T	—	benign
rs4855860	3:49,526,044	A/T	—	benign
rs4855859	3:49,526,300	C/T	—	benign
rs7374731	3:49,533,094	C/G	intron variant	—
rs11708955	3:49,540,114	T/C	intron variant	—
rs74471041	3:49,542,543	T/G	intron variant	—
rs149273410	3:49,543,515	C/T	intron variant	—
rs56324858	3:49,544,229	A/G	intron variant	—
rs115970881	3:49,544,423	G/T	intron variant	—
rs7622302	3:49,547,561	T/C	—	benign
rs372102352	3:49,547,934	C/T	—	likely benign
rs750907019	3:49,547,944	G/T	—	likely benign
rs781269339	3:49,547,972	G/C	—	uncertain significance
rs2472162799	3:49,547,981	T/G	—	uncertain significance
rs1405959055	3:49,547,982	G/A	—	conflicting classifications of pathogenicity
rs753007018	3:49,547,988	C/G	—	likely benign
rs199501149	3:49,547,990	C/T	—	uncertain significance
rs1229832209	3:49,547,991	G/A	—	likely benign
rs2050734957	3:49,547,999	T/C	—	uncertain significance
rs62261246	3:49,548,006	C/T	—	likely benign
rs2131107	3:49,548,008	C/A	—	pathogenic
rs770996993	3:49,548,009	G/C	—	uncertain significance
rs2107646938	3:49,548,010	G/T	—	uncertain significance
rs771967262	3:49,548,012	G/A	—	likely benign
rs760423386	3:49,548,016	A/G	—	uncertain significance
rs2107647080	3:49,548,022	C/T	—	uncertain significance
rs768105958	3:49,548,024	C/T	—	likely benign
rs2472164281	3:49,548,026	T/A	—	uncertain significance
rs776146096	3:49,548,030	G/T	—	likely benign
rs2472164607	3:49,548,035	C/G	—	uncertain significance
rs752128921	3:49,548,047	C/G	—	uncertain significance
rs767978212	3:49,548,055	C/G	—	uncertain significance
rs146339759	3:49,548,060	G/T	—	uncertain significance
rs970621102	3:49,548,065	G/T	—	uncertain significance
rs1289056506	3:49,548,075	A/C	—	likely benign
rs2050738548	3:49,548,090	C/G	—	uncertain significance
rs2050738653	3:49,548,093	G/C	—	uncertain significance
rs769126051	3:49,548,100	C/G	—	uncertain significance
rs745856285	3:49,548,114	C/T	—	likely benign
rs758104540	3:49,548,115	A/G	—	uncertain significance
rs1329844909	3:49,548,120	C/G	—	uncertain significance
rs2472166182	3:49,548,121	T/C	—	uncertain significance
rs144196027	3:49,548,127	C/G	—	uncertain significance
rs2472166399	3:49,548,128	T/C	—	uncertain significance
rs371638777	3:49,548,129	C/G	—	likely benign
rs956626990	3:49,548,140	A/T	—	uncertain significance
rs760114682	3:49,548,141	C/T	—	likely benign
rs767737417	3:49,548,142	G/T	—	conflicting classifications of pathogenicity
rs2107648206	3:49,548,148	G/A	—	uncertain significance
rs775928044	3:49,548,150	T/C	—	conflicting classifications of pathogenicity
rs375938350	3:49,548,152	C/T	—	uncertain significance
rs754181564	3:49,548,155	C/T	—	uncertain significance
rs757379579	3:49,548,160	G/A	—	uncertain significance
rs2107648464	3:49,548,177	C/T	—	uncertain significance
rs142572135	3:49,548,179	C/A	—	uncertain significance
rs148703095	3:49,548,180	G/A	—	likely benign
rs374339687	3:49,548,183	T/C	—	likely benign
rs145165301	3:49,548,186	C/T	—	conflicting classifications of pathogenicity
rs189360006	3:49,548,187	G/A	missense variant	pathogenic
rs2472167869	3:49,548,188	T/C	—	uncertain significance
rs150727558	3:49,548,189	C/T	—	conflicting classifications of pathogenicity
rs772814756	3:49,548,193	C/T	—	uncertain significance
rs950805280	3:49,548,194	G/A	—	uncertain significance
rs2050743041	3:49,548,196	T/C	—	uncertain significance
rs1334656238	3:49,548,202	C/T	—	pathogenic
rs2472168403	3:49,548,204	A/G	—	likely benign
rs202047972	3:49,548,210	C/G	—	likely benign
rs141706514	3:49,548,211	A/G	—	uncertain significance
rs145403829	3:49,548,225	G/C	—	conflicting classifications of pathogenicity
rs116717961	3:49,548,226	A/G	—	likely benign
rs1575387362	3:49,548,228	T/C	—	likely benign
rs765191278	3:49,548,231	C/T	—	likely benign
rs140454570	3:49,548,235	A/G	—	uncertain significance
rs1193999215	3:49,548,238	G/A	—	uncertain significance
rs766324183	3:49,548,239	G/A	—	uncertain significance
rs149218670	3:49,548,245	T/C	—	conflicting classifications of pathogenicity
rs754748374	3:49,548,251	A/G	—	uncertain significance
rs2050744878	3:49,548,253	G/A	—	pathogenic
rs2050744897	3:49,548,259	C/T	—	likely benign
rs2329024	3:49,548,294	T/C	—	benign
rs13062429	3:49,559,485	A/G	intron variant	—
rs79896705	3:49,567,897	G/C	—	likely benign
rs2311801	3:49,568,095	G/A	—	benign
rs115435316	3:49,568,181	A/G	—	likely benign
rs112776980	3:49,568,213	G/T	—	likely benign
rs2107922008	3:49,568,221	C/T	—	likely benign

Showing 100 of 585 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.