CSRP3

cysteine and glycine rich protein 3

Summary

This gene encodes a member of the CSRP family of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this protein is found in a group of proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Mutations in this gene are thought to cause heritable forms of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in humans. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants340 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs779532194	11:19,203,579	A/G	—	uncertain significance
rs45599440	11:19,203,588	A/G	—	benign
rs886048093	11:19,203,642	A/G	—	uncertain significance
rs45606836	11:19,203,658	C/T	—	uncertain significance
rs886048094	11:19,203,713	T/C	—	uncertain significance
rs45479995	11:19,203,767	A/C	—	likely benign
rs180844111	11:19,203,802	T/C	—	uncertain significance
rs1850449954	11:19,203,925	T/A	—	uncertain significance
rs369635973	11:19,203,972	A/G	—	uncertain significance
rs45597034	11:19,204,043	A/G	—	likely benign
rs886048095	11:19,204,058	G/A	—	uncertain significance
rs779471970	11:19,204,188	G/A	—	uncertain significance
rs45607943	11:19,204,205	C/T	—	likely benign
rs774359383	11:19,204,219	A/T	—	uncertain significance
rs1416161696	11:19,204,220	T/C	—	likely benign
rs571722496	11:19,204,222	C/G	—	uncertain significance
rs141100524	11:19,204,226	C/G	—	uncertain significance
rs1376418428	11:19,204,230	T/A	—	uncertain significance
rs145073736	11:19,204,234	C/A	—	conflicting classifications of pathogenicity
rs2133503835	11:19,204,240	G/C	—	uncertain significance
rs2494214690	11:19,204,249	C/T	—	uncertain significance
rs943580857	11:19,204,251	C/T	—	uncertain significance
rs111868331	11:19,204,258	C/G	—	uncertain significance
rs1565049312	11:19,204,260	A/G	—	uncertain significance
rs904202473	11:19,204,261	T/C	—	uncertain significance
rs727504899	11:19,204,263	C/A	—	uncertain significance
rs547374738	11:19,204,264	C/A	—	conflicting classifications of pathogenicity
rs886048096	11:19,204,265	C/T	—	uncertain significance
rs142019584	11:19,204,266	G/A	missense variant	uncertain significance
rs397516859	11:19,204,267	T/C	—	conflicting classifications of pathogenicity
rs767944340	11:19,204,269	G/A	—	uncertain significance
rs749002955	11:19,204,270	G/A	—	uncertain significance
rs2133503927	11:19,204,276	A/C	—	uncertain significance
rs370147131	11:19,204,278	T/C	—	uncertain significance
rs1175934112	11:19,204,284	G/A	—	uncertain significance
rs727504575	11:19,204,286	A/T	—	uncertain significance
rs1850457848	11:19,204,288	A/G	—	uncertain significance
rs376799144	11:19,204,289	G/A	—	likely benign
rs770760020	11:19,204,291	A/C	—	uncertain significance
rs1447306323	11:19,204,298	G/A	—	likely benign
rs1565049368	11:19,204,300	A/C	—	uncertain significance
rs2133503964	11:19,204,301	T/C	—	likely benign
rs371700321	11:19,204,309	G/A	—	likely benign
rs375020550	11:19,204,313	G/T	—	likely benign
rs45549043	11:19,204,403	A/G	—	benign
rs72904149	11:19,204,423	G/A	—	likely benign
rs11025046	11:19,204,494	G/A	—	benign
rs11025047	11:19,204,508	G/A	—	benign
rs2288251	11:19,206,426	A/T	—	benign
rs144404101	11:19,206,481	G/A	—	likely benign
rs373822409	11:19,206,482	T/A	—	likely benign
rs727504517	11:19,206,490	A/G	—	likely benign
rs2494218490	11:19,206,492	C/A	—	likely benign
rs2133506773	11:19,206,494	C/G	—	uncertain significance
rs754267141	11:19,206,497	A/G	—	uncertain significance
rs757433657	11:19,206,499	C/A	—	uncertain significance
rs1161551238	11:19,206,506	A/G	—	likely benign
rs1565050249	11:19,206,510	A/C	—	uncertain significance
rs150114628	11:19,206,511	G/C	—	uncertain significance
rs2133506813	11:19,206,517	C/T	—	uncertain significance
rs138254181	11:19,206,526	C/G	—	uncertain significance
rs2133506829	11:19,206,527	A/G	—	likely benign
rs2494218580	11:19,206,528	G/T	—	uncertain significance
rs1373333255	11:19,206,535	T/C	—	uncertain significance
rs758379114	11:19,206,540	G/A	—	uncertain significance
rs200334242	11:19,206,542	C/A	—	likely benign
rs1554967431	11:19,206,546	A/C	—	uncertain significance
rs2494218636	11:19,206,547	G/C	—	uncertain significance
rs1590102813	11:19,206,548	A/T	—	uncertain significance
rs2494218647	11:19,206,549	C/A	—	uncertain significance
rs397516856	11:19,206,551	C/T	—	likely benign
rs2494218659	11:19,206,552	T/C	—	uncertain significance
rs878854613	11:19,206,555	C/T	—	uncertain significance
rs761507504	11:19,206,558	C/T	—	pathogenic
rs1490491672	11:19,206,562	T/A	—	uncertain significance
rs2133506914	11:19,206,564	G/A	—	uncertain significance
rs2133506925	11:19,206,568	A/G	—	uncertain significance
rs377066670	11:19,206,570	C/T	—	uncertain significance
rs376198883	11:19,206,571	G/A	—	uncertain significance
rs759269008	11:19,206,573	A/C	—	likely pathogenic
rs2133506955	11:19,206,576	C/T	—	uncertain significance
rs2133506962	11:19,206,583	T/C	—	uncertain significance
rs1590102843	11:19,206,584	G/T	—	uncertain significance
rs1565050320	11:19,206,587	C/G	—	pathogenic
rs775194825	11:19,206,593	C/T	—	uncertain significance
rs1850502742	11:19,206,594	T/G	—	conflicting classifications of pathogenicity
rs1168570588	11:19,206,595	G/A	—	uncertain significance
rs1850502872	11:19,206,598	G/A	—	likely benign
rs761203242	11:19,206,601	C/G	—	likely benign
rs2494218781	11:19,206,602	A/T	—	uncertain significance
rs886048097	11:19,206,603	C/A	—	conflicting classifications of pathogenicity
rs2133507025	11:19,206,608	A/G	—	likely benign
rs754190437	11:19,206,610	G/C	—	likely benign
rs7103779	11:19,206,622	A/G	—	likely benign
rs7103903	11:19,206,688	C/T	—	benign
rs77264304	11:19,207,499	T/C	—	likely benign
rs778831593	11:19,207,747	A/G	—	likely benign
rs1369057642	11:19,207,755	G/A	—	likely benign
rs2494220123	11:19,207,756	G/A	—	likely benign
rs745491806	11:19,207,757	T/C	—	uncertain significance

Showing 100 of 340 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.