MATR3

matrin 3

Summary

This gene encodes a nuclear matrix protein, which is proposed to stabilize certain messenger RNA species. Mutations of this gene are associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts composed of the upstream small nucleolar RNA host gene 4 (non-protein coding) and matrin 3 gene sequence, have been identified. Pseudogenes of this gene are located on chromosomes 1 and X. [provided by RefSeq, Aug 2013]

Known Variants439 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs773123084	5:138,609,435	G/A	—	likely benign
rs779721416	5:138,609,570	C/T	—	uncertain significance
rs765907489	5:138,609,576	A/G	—	benign
rs11242456	5:138,609,609	C/G	—	benign
rs1753162477	5:138,609,656	T/C	—	uncertain significance
rs751398373	5:138,609,797	C/T	—	uncertain significance
rs539017488	5:138,611,841	T/A	—	uncertain significance
rs141402332	5:138,614,749	C/T	—	benign
rs187275366	5:138,614,870	T/C	downstream gene variant	—
rs766117433	5:138,629,718	G/T	—	uncertain significance
rs3172746	5:138,629,963	T/G	—	benign
rs886059986	5:138,642,966	G/A	—	uncertain significance
rs886059987	5:138,642,981	T/C	—	uncertain significance
rs59033177	5:138,643,049	G/A	—	likely benign
rs12153162	5:138,643,062	A/T	—	benign
rs192397681	5:138,643,063	T/A	—	likely benign
rs375381025	5:138,643,100	C/G	—	uncertain significance
rs184609870	5:138,643,119	C/T	—	likely benign
rs775340798	5:138,643,122	G/A	—	likely benign
rs757397034	5:138,643,160	G/A	—	uncertain significance
rs1467537595	5:138,643,167	G/C	—	likely benign
rs866372806	5:138,643,172	C/T	—	uncertain significance
rs750693851	5:138,643,173	G/A	—	likely benign
rs2546754768	5:138,643,180	A/G	—	uncertain significance
rs2546754791	5:138,643,185	C/G	—	likely benign
rs1754770320	5:138,643,189	C/T	—	uncertain significance
rs773691746	5:138,643,194	T/C	—	likely benign
rs758775566	5:138,643,197	T/G	—	likely benign
rs747469006	5:138,643,206	G/A	—	likely benign
rs2546755035	5:138,643,216	A/G	—	uncertain significance
rs901471149	5:138,643,257	C/T	—	likely benign
rs1754772974	5:138,643,269	A/G	—	likely benign
rs1357612214	5:138,643,288	T/A	—	uncertain significance
rs2546755417	5:138,643,293	A/G	—	conflicting classifications of pathogenicity
rs775134951	5:138,643,294	T/C	—	likely benign
rs2546755458	5:138,643,300	C/A	—	uncertain significance
rs1475340889	5:138,643,337	C/A	—	uncertain significance
rs121434591	5:138,643,358	C/G	missense variant	pathogenic
rs201277902	5:138,643,360	A/G	—	uncertain significance
rs528548235	5:138,643,369	A/G	—	likely benign
rs1460343731	5:138,643,376	G/A	—	uncertain significance
rs147239107	5:138,643,395	A/G	—	likely benign
rs2546756072	5:138,643,402	C/G	—	uncertain significance
rs1327023414	5:138,643,408	C/T	—	uncertain significance
rs886059988	5:138,643,409	G/A	—	uncertain significance
rs1397245799	5:138,643,410	T/C	—	likely benign
rs745440760	5:138,643,426	G/T	—	uncertain significance
rs1255035245	5:138,643,429	A/G	—	uncertain significance
rs1433371817	5:138,643,433	A/C	—	uncertain significance
rs1355502588	5:138,643,438	T/C	—	likely benign
rs1554146456	5:138,643,445	G/C	—	not provided
rs587777300	5:138,643,448	T/G	missense variant	uncertain significance
rs2546756346	5:138,643,462	A/G	—	uncertain significance
rs768516057	5:138,643,483	C/T	—	uncertain significance
rs776371632	5:138,643,488	T/C	—	likely benign
rs761842979	5:138,643,497	C/A	—	uncertain significance
rs1436744169	5:138,643,524	A/G	—	likely benign
rs2546756580	5:138,643,533	A/G	—	likely benign
rs1216003612	5:138,643,543	A/C	—	likely benign
rs2151960855	5:138,643,553	C/G	—	uncertain significance
rs771163425	5:138,643,563	C/G	—	likely benign
rs587777302	5:138,643,564	C/T	missense variant	uncertain significance
rs2546756762	5:138,643,566	T/C	—	likely benign
rs766473689	5:138,643,567	A/C	—	uncertain significance
rs1253619045	5:138,643,578	T/C	—	likely benign
rs1191529191	5:138,643,595	C/T	—	uncertain significance
rs138894013	5:138,643,603	C/T	—	uncertain significance
rs1344804460	5:138,643,608	G/A	—	likely benign
rs1336473659	5:138,643,611	A/G	—	likely benign
rs367924183	5:138,643,635	T/C	—	likely benign
rs2546757121	5:138,643,636	T/C	—	uncertain significance
rs374819399	5:138,643,665	T/G	—	uncertain significance
rs754659221	5:138,643,679	G/A	—	uncertain significance
rs2151961098	5:138,643,684	C/T	—	uncertain significance
rs1754794221	5:138,643,701	G/A	—	likely benign
rs2546757516	5:138,643,720	A/G	—	uncertain significance
rs749335257	5:138,643,724	G/A	—	uncertain significance
rs2151961199	5:138,643,730	A/G	—	uncertain significance
rs775810771	5:138,643,761	T/C	—	likely benign
rs2151961303	5:138,643,767	T/C	—	likely benign
rs761066793	5:138,643,774	T/C	—	likely benign
rs199711502	5:138,643,779	A/G	—	conflicting classifications of pathogenicity
rs764544169	5:138,643,791	G/T	—	uncertain significance
rs200871699	5:138,643,793	G/T	—	uncertain significance
rs1230910409	5:138,643,801	G/A	—	uncertain significance
rs2151961434	5:138,643,823	C/T	—	uncertain significance
rs765914696	5:138,643,836	T/C	—	likely benign
rs2546758438	5:138,643,838	A/T	—	uncertain significance
rs2546758478	5:138,643,847	G/T	—	uncertain significance
rs780753769	5:138,643,851	G/A	—	likely benign
rs1031948008	5:138,643,853	A/G	—	uncertain significance
rs1223486512	5:138,643,856	A/G	—	uncertain significance
rs774478774	5:138,643,873	C/G	—	uncertain significance
rs2546758727	5:138,643,880	C/T	—	uncertain significance
rs772308391	5:138,643,886	A/G	—	uncertain significance
rs2546758778	5:138,643,890	G/C	—	uncertain significance
rs1554146560	5:138,643,897	C/A	—	uncertain significance
rs1354833142	5:138,643,899	C/T	—	likely benign
rs2546758913	5:138,643,902	T/G	—	uncertain significance
rs1754806535	5:138,643,917	C/T	—	likely benign

Showing 100 of 439 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.