DTNA

dystrobrevin alpha

Summary

The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Known Variants542 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1053107799	18:32,073,462	C/A	—	likely benign
rs1057521234	18:32,073,490	G/C	—	likely benign
rs112193831	18:32,073,540	A/G	—	benign
rs183120151	18:32,173,451	G/C	—	likely benign
rs748544066	18:32,173,498	C/T	—	benign
rs116012046	18:32,173,709	C/T	—	likely benign
rs144916876	18:32,219,670	G/A	intron variant	—
rs3875084	18:32,259,333	A/T	—	benign
rs773687513	18:32,259,537	G/A	—	likely benign
rs540625328	18:32,290,370	G/C	—	benign
rs560877855	18:32,290,415	G/T	—	likely benign
rs1231051971	18:32,290,421	T/C	—	benign
rs17643207	18:32,309,846	A/T	intron variant	—
rs75850110	18:32,335,653	A/T	—	benign
rs6650657	18:32,335,661	A/G	—	likely benign
rs6650658	18:32,335,915	A/G	—	benign
rs984784834	18:32,335,944	A/T	—	uncertain significance
rs1377417445	18:32,335,949	A/T	—	uncertain significance
rs964404879	18:32,335,955	T/A	—	uncertain significance
rs1281071710	18:32,335,956	G/C	—	uncertain significance
rs397517446	18:32,335,957	G/C	—	uncertain significance
rs2514849268	18:32,335,965	G/C	—	uncertain significance
rs2092743024	18:32,335,971	A/G	—	uncertain significance
rs2148227417	18:32,335,988	A/G	—	likely benign
rs368000651	18:32,335,991	G/A	—	likely benign
rs754265551	18:32,335,994	G/A	—	conflicting classifications of pathogenicity
rs2514850826	18:32,336,014	A/G	—	likely benign
rs979990151	18:32,336,015	T/C	—	likely benign
rs876657460	18:32,336,019	T/A	—	likely benign
rs190610201	18:32,345,683	C/G	—	likely benign
rs2515457830	18:32,345,915	C/T	—	likely benign
rs372126412	18:32,345,918	G/A	—	conflicting classifications of pathogenicity
rs1243309715	18:32,345,919	C/T	—	likely benign
rs1243110074	18:32,345,920	A/G	—	likely benign
rs751765838	18:32,345,926	G/A	—	likely benign
rs2515459031	18:32,345,935	T/C	—	likely benign
rs2515459118	18:32,345,936	C/T	—	likely benign
rs781374642	18:32,345,942	C/T	—	uncertain significance
rs1249921119	18:32,345,943	G/A	—	uncertain significance
rs1480526218	18:32,345,945	A/T	—	uncertain significance
rs202046233	18:32,345,949	G/A	—	benign
rs778817036	18:32,345,950	A/G	—	likely benign
rs1162412939	18:32,345,953	C/G	—	likely benign
rs2093447664	18:32,345,955	C/T	—	uncertain significance
rs747882219	18:32,345,959	C/T	—	likely benign
rs2515460507	18:32,345,961	A/G	—	uncertain significance
rs200256996	18:32,345,969	G/A	—	uncertain significance
rs1005316955	18:32,345,971	A/T	—	likely benign
rs2093448253	18:32,345,974	C/A	—	uncertain significance
rs376001633	18:32,345,983	G/A	—	likely benign
rs1298586276	18:32,345,997	A/G	—	uncertain significance
rs775975702	18:32,346,003	A/G	—	uncertain significance
rs1555778803	18:32,346,005	T/G	—	uncertain significance
rs569911314	18:32,346,006	G/A	—	uncertain significance
rs397517445	18:32,346,012	A/G	—	likely benign
rs201756674	18:32,346,013	T/C	—	conflicting classifications of pathogenicity
rs75545220	18:32,346,034	A/G	—	likely benign
rs1383288	18:32,346,149	G/T	—	benign
rs1842413	18:32,350,806	A/G	upstream gene variant	—
rs79495154	18:32,351,696	A/G	upstream gene variant	—
rs1383291	18:32,373,716	A/T	—	benign
rs1383290	18:32,373,736	C/A	—	benign
rs73412657	18:32,373,820	T/C	—	benign
rs9989533	18:32,373,873	C/T	—	benign
rs752608761	18:32,373,986	C/G	—	likely benign
rs756884885	18:32,374,005	C/T	—	likely benign
rs780815924	18:32,374,006	C/G	—	uncertain significance
rs1487690122	18:32,374,015	A/G	—	uncertain significance
rs769176953	18:32,374,024	G/T	—	uncertain significance
rs145335092	18:32,374,026	C/T	—	likely benign
rs1057518968	18:32,374,029	A/G	missense variant	pathogenic
rs767620520	18:32,374,034	C/G	—	uncertain significance
rs773407468	18:32,374,039	C/G	—	uncertain significance
rs766420415	18:32,374,040	G/A	—	uncertain significance
rs727505106	18:32,374,041	G/A	—	likely benign
rs2516937166	18:32,374,048	G/T	—	uncertain significance
rs148805060	18:32,374,058	A/C	—	uncertain significance
rs1060503523	18:32,374,061	T/C	—	uncertain significance
rs117571555	18:32,374,062	A/G	—	likely benign
rs1568544447	18:32,374,072	A/G	—	uncertain significance
rs1002773493	18:32,374,080	C/T	—	likely benign
rs147782267	18:32,374,081	A/G	—	conflicting classifications of pathogenicity
rs147759402	18:32,374,083	C/T	—	benign
rs1175132407	18:32,374,084	G/A	—	uncertain significance
rs779579352	18:32,374,088	C/T	—	uncertain significance
rs769262906	18:32,374,090	C/T	—	uncertain significance
rs774912781	18:32,374,091	G/A	—	uncertain significance
rs146923532	18:32,374,095	A/G	—	likely benign
rs2516940472	18:32,374,107	C/A	—	likely benign
rs2094869533	18:32,374,113	T/C	—	likely benign
rs1242383709	18:32,374,114	A/G	—	uncertain significance
rs776672964	18:32,374,116	T/C	—	likely benign
rs2149041135	18:32,374,119	T/C	—	likely benign
rs1400410105	18:32,374,123	C/G	—	uncertain significance
rs751436638	18:32,374,134	A/G	—	likely benign
rs2094870463	18:32,374,136	G/A	—	uncertain significance
rs2516942050	18:32,374,145	C/T	—	uncertain significance
rs200736432	18:32,374,147	A/G	—	uncertain significance
rs959010180	18:32,374,150	C/T	—	uncertain significance
rs140768365	18:32,374,168	C/G	—	uncertain significance

Showing 100 of 542 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.