TPM3

tropomyosin 3

Summary

This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

Known Variants319 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs17366292	1:154,131,197	A/G	—	likely benign
rs576691614	1:154,134,316	C/A	—	uncertain significance
rs886045285	1:154,134,487	A/G	—	uncertain significance
rs1287850337	1:154,134,512	C/G	—	uncertain significance
rs890715632	1:154,134,543	T/A	—	uncertain significance
rs1159409765	1:154,134,548	T/C	—	uncertain significance
rs3196889	1:154,134,557	A/C	—	benign
rs981377315	1:154,134,618	G/A	—	uncertain significance
rs777522493	1:154,134,658	T/C	—	uncertain significance
rs527401847	1:154,134,698	G/A	—	uncertain significance
rs373631033	1:154,134,712	G/A	—	likely benign
rs547577437	1:154,134,755	C/T	—	uncertain significance
rs564296987	1:154,134,773	G/A	—	conflicting classifications of pathogenicity
rs550606876	1:154,134,819	C/A	—	conflicting classifications of pathogenicity
rs886045286	1:154,134,830	G/A	—	uncertain significance
rs886045287	1:154,134,836	G/A	—	uncertain significance
rs973966350	1:154,134,913	G/C	—	uncertain significance
rs12064494	1:154,134,973	T/G	—	uncertain significance
rs929840818	1:154,134,976	C/T	—	uncertain significance
rs1039422203	1:154,135,007	T/C	—	uncertain significance
rs143097126	1:154,135,147	A/C	—	uncertain significance
rs1020851805	1:154,135,174	G/A	—	uncertain significance
rs1660513178	1:154,135,209	G/A	—	uncertain significance
rs78002555	1:154,135,264	C/T	—	likely benign
rs4446955	1:154,135,445	T/C	—	benign
rs562373211	1:154,135,473	G/C	—	likely benign
rs995544936	1:154,135,483	C/T	—	uncertain significance
rs1036320708	1:154,135,489	G/A	—	uncertain significance
rs141628385	1:154,135,537	G/A	—	likely benign
rs1660550689	1:154,135,541	T/C	—	uncertain significance
rs186291812	1:154,135,607	T/G	—	uncertain significance
rs886045292	1:154,135,777	C/T	—	uncertain significance
rs886045294	1:154,135,872	A/T	—	uncertain significance
rs886045295	1:154,135,888	C/A	—	uncertain significance
rs886045296	1:154,135,900	C/T	—	uncertain significance
rs139123540	1:154,135,970	C/A	—	uncertain significance
rs373468102	1:154,135,990	C/T	—	uncertain significance
rs886045297	1:154,136,024	C/A	—	uncertain significance
rs34629044	1:154,136,080	T/C	—	likely benign
rs886045298	1:154,136,111	T/C	—	uncertain significance
rs1383649289	1:154,136,126	T/C	—	uncertain significance
rs886045299	1:154,136,210	C/T	—	uncertain significance
rs886045300	1:154,136,219	C/T	—	uncertain significance
rs145053113	1:154,136,259	G/A	—	likely benign
rs559852699	1:154,136,318	C/T	—	uncertain significance
rs140590273	1:154,136,351	C/T	—	likely benign
rs1571372689	1:154,136,541	A/G	—	uncertain significance
rs763202740	1:154,136,553	G/A	—	uncertain significance
rs12063890	1:154,136,591	C/A	—	benign
rs190553185	1:154,136,594	C/T	—	uncertain significance
rs886045301	1:154,136,606	C/A	—	uncertain significance
rs555633635	1:154,136,657	G/T	—	uncertain significance
rs886045302	1:154,136,855	C/T	—	uncertain significance
rs144544045	1:154,136,916	A/G	—	likely benign
rs753333464	1:154,136,932	G/A	—	uncertain significance
rs946669485	1:154,137,115	T/C	—	uncertain significance
rs12026177	1:154,137,165	C/T	—	likely benign
rs1207872451	1:154,137,398	C/T	—	uncertain significance
rs9628669	1:154,137,629	G/A	—	benign
rs886045303	1:154,137,639	C/G	—	uncertain significance
rs897434039	1:154,137,656	G/C	—	uncertain significance
rs11265201	1:154,137,694	C/T	—	benign
rs886045304	1:154,137,738	A/G	—	uncertain significance
rs555966358	1:154,137,761	G/A	—	uncertain significance
rs767983989	1:154,137,783	A/T	—	uncertain significance
rs886045305	1:154,137,816	C/A	—	uncertain significance
rs6661996	1:154,137,848	C/T	—	benign
rs968828245	1:154,137,869	G/A	—	uncertain significance
rs1243423616	1:154,137,990	C/T	—	uncertain significance
rs142369480	1:154,138,004	C/G	—	benign
rs201157203	1:154,138,115	A/G	—	uncertain significance
rs1261513379	1:154,138,118	A/G	—	uncertain significance
rs561949016	1:154,138,173	G/A	—	uncertain significance
rs886045306	1:154,138,193	A/G	—	uncertain significance
rs6672584	1:154,138,202	T/G	—	benign
rs10908723	1:154,138,228	G/A	—	benign
rs1363684144	1:154,138,261	G/A	—	uncertain significance
rs566002553	1:154,138,275	A/G	—	likely benign
rs886045307	1:154,138,297	A/G	—	uncertain significance
rs151275058	1:154,138,312	A/G	—	uncertain significance
rs140536164	1:154,138,344	G/A	—	benign
rs969372773	1:154,138,360	C/G	—	uncertain significance
rs886045308	1:154,138,378	G/A	—	uncertain significance
rs758111582	1:154,138,398	A/G	—	uncertain significance
rs910205963	1:154,138,446	G/A	—	uncertain significance
rs886045309	1:154,138,449	T/C	—	uncertain significance
rs114799756	1:154,138,622	C/T	—	benign
rs575927755	1:154,138,752	G/A	—	uncertain significance
rs543538969	1:154,138,761	C/T	—	uncertain significance
rs949522786	1:154,138,892	C/A	—	uncertain significance
rs1005684992	1:154,138,966	C/T	—	uncertain significance
rs1660988364	1:154,139,016	T/C	—	uncertain significance
rs563700738	1:154,139,054	C/A	—	uncertain significance
rs375670563	1:154,139,122	T/C	—	benign
rs535068015	1:154,139,261	G/A	—	conflicting classifications of pathogenicity
rs143058197	1:154,139,283	G/A	—	likely benign
rs886045310	1:154,139,316	G/A	—	uncertain significance
rs886045311	1:154,139,320	A/G	—	uncertain significance
rs557217738	1:154,139,336	T/G	—	conflicting classifications of pathogenicity
rs6673171	1:154,139,381	A/C	—	benign

Showing 100 of 319 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.