CRTAP

cartilage associated protein

Summary

The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008]

Known Variants536 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs6809511	3:33,155,264	T/G	—	benign
rs6550207	3:33,155,385	T/C	—	benign
rs185181552	3:33,155,392	A/C	—	likely benign
rs900256700	3:33,155,451	G/A	—	uncertain significance
rs189698814	3:33,155,469	G/C	—	conflicting classifications of pathogenicity
rs549258892	3:33,155,482	C/T	—	uncertain significance
rs890031275	3:33,155,487	G/A	—	uncertain significance
rs1369155614	3:33,155,525	T/G	—	likely benign
rs1553616449	3:33,155,531	C/G	—	likely benign
rs567359532	3:33,155,535	C/T	—	conflicting classifications of pathogenicity
rs2471560599	3:33,155,571	T/C	—	pathogenic
rs72659357	3:33,155,572	G/A	missense variant	pathogenic
rs1701306171	3:33,155,573	G/C	—	uncertain significance
rs13090149	3:33,155,575	G/A	—	likely benign
rs1238368716	3:33,155,577	C/A	—	uncertain significance
rs1701306394	3:33,155,578	G/A	—	likely benign
rs758652009	3:33,155,582	C/A	—	uncertain significance
rs1701306755	3:33,155,585	C/A	—	conflicting classifications of pathogenicity
rs780490905	3:33,155,586	G/T	—	uncertain significance
rs1333081449	3:33,155,587	G/C	—	likely benign
rs886044235	3:33,155,589	G/C	—	uncertain significance
rs747170148	3:33,155,590	G/A	—	likely benign
rs770294468	3:33,155,592	C/T	—	uncertain significance
rs781622392	3:33,155,593	C/G	—	likely benign
rs748214555	3:33,155,596	G/A	—	likely benign
rs769955892	3:33,155,598	C/T	—	uncertain significance
rs2471560806	3:33,155,603	C/T	—	likely benign
rs2471560809	3:33,155,604	T/C	—	uncertain significance
rs1575512623	3:33,155,605	A/G	—	likely benign
rs137853938	3:33,155,607	C/A	—	uncertain significance
rs774113733	3:33,155,608	G/T	—	likely benign
rs909805285	3:33,155,609	C/G	—	uncertain significance
rs2471560837	3:33,155,611	G/A	—	likely benign
rs1242267650	3:33,155,614	G/A	—	likely benign
rs200576259	3:33,155,618	G/A	—	conflicting classifications of pathogenicity
rs1701308393	3:33,155,619	T/A	—	uncertain significance
rs2471560885	3:33,155,626	C/A	—	pathogenic
rs2471560891	3:33,155,627	G/A	—	uncertain significance
rs1393255225	3:33,155,629	G/T	—	uncertain significance
rs775265156	3:33,155,631	T/G	—	uncertain significance
rs775904940	3:33,155,632	G/C	—	likely benign
rs1401887028	3:33,155,637	C/T	—	uncertain significance
rs763727738	3:33,155,639	G/A	—	uncertain significance
rs776316982	3:33,155,641	G/A	—	likely benign
rs1701309282	3:33,155,642	C/A	—	uncertain significance
rs918303663	3:33,155,644	C/T	—	likely benign
rs1011859541	3:33,155,650	A/G	—	likely benign
rs1204244110	3:33,155,652	A/G	—	uncertain significance
rs766784647	3:33,155,654	G/C	—	uncertain significance
rs553076085	3:33,155,657	C/T	—	uncertain significance
rs1256135890	3:33,155,659	C/G	—	likely benign
rs372115693	3:33,155,661	A/G	—	uncertain significance
rs889981988	3:33,155,662	C/T	—	likely benign
rs748431852	3:33,155,663	A/G	—	uncertain significance
rs2471561028	3:33,155,665	C/T	—	likely benign
rs777919906	3:33,155,668	C/G	—	uncertain significance
rs1468902182	3:33,155,670	G/T	—	uncertain significance
rs573867257	3:33,155,673	G/C	—	uncertain significance
rs960183840	3:33,155,674	C/T	—	likely benign
rs2471561066	3:33,155,677	C/T	—	likely benign
rs772038741	3:33,155,680	A/G	—	conflicting classifications of pathogenicity
rs1311153988	3:33,155,682	G/C	—	uncertain significance
rs746788797	3:33,155,683	G/T	—	likely benign
rs768482278	3:33,155,684	G/T	—	uncertain significance
rs863225043	3:33,155,687	G/T	stop gained	pathogenic
rs904106169	3:33,155,690	C/T	—	likely benign
rs761551356	3:33,155,694	T/C	—	uncertain significance
rs764596502	3:33,155,698	G/A	—	likely benign
rs772784211	3:33,155,700	T/C	—	uncertain significance
rs114946269	3:33,155,701	C/T	—	likely benign
rs1258831269	3:33,155,708	G/A	—	uncertain significance
rs921747844	3:33,155,710	C/A	—	likely benign
rs768012717	3:33,155,712	A/G	—	uncertain significance
rs1376339738	3:33,155,715	G/C	—	uncertain significance
rs2471561205	3:33,155,719	C/T	—	likely benign
rs1435396409	3:33,155,724	T/C	—	uncertain significance
rs752802071	3:33,155,726	G/C	—	uncertain significance
rs753943184	3:33,155,731	G/A	—	likely benign
rs779938681	3:33,155,732	T/C	—	uncertain significance
rs571617130	3:33,155,736	G/A	—	conflicting classifications of pathogenicity
rs146112611	3:33,155,737	C/G	—	uncertain significance
rs1234822246	3:33,155,738	G/A	—	uncertain significance
rs747689884	3:33,155,739	G/A	—	uncertain significance
rs769484595	3:33,155,741	G/T	—	pathogenic
rs1701312995	3:33,155,742	A/G	—	uncertain significance
rs2471561343	3:33,155,748	G/A	—	pathogenic
rs762493402	3:33,155,752	C/A	—	likely benign
rs1178355967	3:33,155,758	C/T	—	likely benign
rs980362184	3:33,155,759	G/C	—	uncertain significance
rs1701313445	3:33,155,763	G/A	—	uncertain significance
rs2471561399	3:33,155,764	C/A	—	likely benign
rs1171295906	3:33,155,765	T/G	—	uncertain significance
rs137853939	3:33,155,767	C/A	—	pathogenic
rs1701313686	3:33,155,773	G/A	—	likely benign
rs1371305889	3:33,155,776	C/A	—	likely benign
rs2125595939	3:33,155,779	C/T	—	likely benign
rs11558338	3:33,155,782	G/A	—	benign
rs1222420596	3:33,155,784	G/T	—	uncertain significance
rs1227411759	3:33,155,785	G/A	—	likely benign
rs935134776	3:33,155,786	C/T	—	likely benign

Showing 100 of 536 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.