FERMT1

FERM domain containing kindlin 1

Summary

This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome. [provided by RefSeq, Dec 2009]

Known Variants474 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs560038077	20:6,055,526	A/C	—	uncertain significance
rs886056891	20:6,055,570	G/A	—	uncertain significance
rs527535068	20:6,055,593	G/A	—	uncertain significance
rs1981768610	20:6,055,599	T/C	—	uncertain significance
rs369543395	20:6,055,616	A/G	—	likely benign
rs60522800	20:6,055,696	G/T	—	uncertain significance
rs529395851	20:6,055,702	T/C	—	likely benign
rs867781973	20:6,055,747	T/A	—	uncertain significance
rs1059396	20:6,055,751	A/G	—	benign
rs886056894	20:6,055,752	T/C	—	uncertain significance
rs12945	20:6,055,762	G/A	—	benign
rs6117066	20:6,055,804	A/T	—	benign
rs146142837	20:6,055,935	C/T	—	uncertain significance
rs1011868040	20:6,055,977	G/T	—	uncertain significance
rs577291407	20:6,056,046	C/T	—	uncertain significance
rs185563337	20:6,056,289	C/T	—	uncertain significance
rs41282954	20:6,056,348	C/T	—	uncertain significance
rs1059391	20:6,056,356	A/G	—	benign
rs149665640	20:6,056,362	G/A	—	benign
rs567830651	20:6,056,403	A/G	—	uncertain significance
rs144516379	20:6,056,434	T/A	—	benign
rs886056895	20:6,056,445	C/T	—	uncertain significance
rs550060762	20:6,056,455	G/T	—	likely benign
rs113096626	20:6,056,462	A/C	—	benign
rs541027450	20:6,056,482	A/C	—	uncertain significance
rs557517529	20:6,056,521	G/A	—	uncertain significance
rs111645039	20:6,056,625	T/C	—	benign
rs6139909	20:6,056,665	G/A	—	benign
rs1981810492	20:6,056,683	A/T	—	uncertain significance
rs41282956	20:6,056,744	G/A	—	uncertain significance
rs543610282	20:6,056,762	A/C	—	uncertain significance
rs578179571	20:6,056,785	G/A	—	uncertain significance
rs147620065	20:6,056,816	C/T	—	uncertain significance
rs770860248	20:6,056,860	C/T	—	uncertain significance
rs886056896	20:6,056,869	T/C	—	uncertain significance
rs781104279	20:6,056,888	G/A	—	uncertain significance
rs1981817098	20:6,056,912	T/C	—	uncertain significance
rs6053878	20:6,056,918	C/T	—	benign
rs886056897	20:6,056,924	C/G	—	uncertain significance
rs1424957637	20:6,057,056	C/T	—	uncertain significance
rs370906888	20:6,057,090	G/A	—	uncertain significance
rs192292204	20:6,057,123	C/T	—	uncertain significance
rs183993931	20:6,057,182	G/A	—	uncertain significance
rs1009430299	20:6,057,370	T/C	—	uncertain significance
rs576410071	20:6,057,382	G/A	—	uncertain significance
rs1404070314	20:6,057,384	T/C	—	uncertain significance
rs754192569	20:6,057,515	G/A	—	uncertain significance
rs115761930	20:6,057,522	C/A	—	likely benign
rs144550350	20:6,057,554	T/G	—	likely benign
rs368493929	20:6,057,569	G/C	—	uncertain significance
rs755160970	20:6,057,613	G/C	—	uncertain significance
rs1981842140	20:6,057,615	G/C	—	uncertain significance
rs114990723	20:6,057,626	C/T	—	benign
rs16991740	20:6,057,627	G/A	—	benign
rs565391841	20:6,057,646	A/T	—	uncertain significance
rs2232084	20:6,057,748	C/A	—	benign
rs191481526	20:6,057,761	T/C	—	likely benign
rs766971644	20:6,057,778	T/C	—	uncertain significance
rs368745513	20:6,057,835	G/A	—	likely benign
rs752500262	20:6,057,842	T/G	—	uncertain significance
rs773618744	20:6,057,861	C/T	—	uncertain significance
rs184046854	20:6,057,862	G/A	—	conflicting classifications of pathogenicity
rs771166313	20:6,057,864	G/A	—	uncertain significance
rs1357570688	20:6,057,872	T/C	—	uncertain significance
rs1298972613	20:6,057,886	G/A	—	likely benign
rs201899720	20:6,057,887	C/T	—	uncertain significance
rs1368183738	20:6,057,898	G/A	—	likely benign
rs1271437014	20:6,057,901	A/C	—	uncertain significance
rs2514680164	20:6,057,902	A/T	—	uncertain significance
rs558908354	20:6,057,909	C/T	—	uncertain significance
rs570732725	20:6,057,910	G/A	—	conflicting classifications of pathogenicity
rs998049821	20:6,057,914	A/G	—	uncertain significance
rs1287656788	20:6,057,915	T/G	—	uncertain significance
rs2514680218	20:6,057,924	G/T	—	uncertain significance
rs763711311	20:6,057,927	C/T	—	uncertain significance
rs2514680264	20:6,057,940	T/C	—	likely benign
rs1413934400	20:6,057,946	C/T	—	likely benign
rs1981855850	20:6,057,947	A/G	—	uncertain significance
rs2514680279	20:6,057,949	G/A	—	likely benign
rs2514680306	20:6,057,967	G/C	—	likely benign
rs1347340686	20:6,057,969	C/T	—	uncertain significance
rs2232083	20:6,057,970	A/G	—	likely benign
rs1331533997	20:6,057,990	C/A	—	uncertain significance
rs1981856948	20:6,057,991	C/T	—	uncertain significance
rs2514680388	20:6,057,993	C/T	—	uncertain significance
rs779915885	20:6,057,994	C/T	—	pathogenic
rs2232082	20:6,058,001	A/G	—	benign
rs2514680448	20:6,058,013	A/G	—	likely benign
rs73603091	20:6,058,107	A/T	—	benign
rs6117068	20:6,058,210	T/C	—	benign
rs2514682963	20:6,060,071	C/T	—	likely benign
rs2514682982	20:6,060,078	T/C	—	uncertain significance
rs1230352049	20:6,060,086	C/T	—	likely benign
rs773937264	20:6,060,087	C/T	—	uncertain significance
rs869312731	20:6,060,095	C/T	stop gained	pathogenic
rs753750023	20:6,060,117	A/G	—	uncertain significance
rs747159883	20:6,060,124	T/C	—	uncertain significance
rs776343825	20:6,060,125	G/A	—	likely benign
rs1172664527	20:6,060,131	C/T	—	likely pathogenic
rs1765656333	20:6,060,134	T/A	—	likely benign

Showing 100 of 474 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.