FRMD7

FERM domain containing 7

Summary

Predicted to be involved in regulation of neuron projection development. Predicted to act upstream of or within negative regulation of stress fiber assembly; positive regulation of lamellipodium assembly; and positive regulation of small GTPase mediated signal transduction. Located in cytosol; nucleoplasm; and plasma membrane. Implicated in congenital nystagmus 1. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants362 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs184089624	X:131,211,073	A/T	—	likely benign
rs41312755	X:131,211,084	C/T	—	benign
rs41300293	X:131,211,170	T/C	—	likely benign
rs188431168	X:131,211,215	A/G	—	likely benign
rs3764771	X:131,211,235	T/A	—	benign
rs750133372	X:131,211,300	G/C	—	uncertain significance
rs963218129	X:131,211,327	C/A	—	uncertain significance
rs5975315	X:131,211,466	G/A	—	benign
rs1029630139	X:131,211,600	A/G	—	uncertain significance
rs1057515769	X:131,211,607	C/G	—	uncertain significance
rs766974170	X:131,211,615	G/A	—	uncertain significance
rs1057515770	X:131,211,704	C/G	—	uncertain significance
rs372458379	X:131,211,900	T/A	—	uncertain significance
rs1490779227	X:131,211,920	A/G	—	uncertain significance
rs767207907	X:131,211,929	G/A	—	likely benign
rs1259890351	X:131,211,931	G/A	—	conflicting classifications of pathogenicity
rs928267747	X:131,211,933	A/G	—	likely benign
rs1428181347	X:131,211,935	T/C	—	uncertain significance
rs755805433	X:131,211,952	G/A	—	uncertain significance
rs1927658787	X:131,211,958	T/C	—	uncertain significance
rs2520688446	X:131,211,974	C/T	—	uncertain significance
rs2124206290	X:131,211,977	C/A	—	uncertain significance
rs369513628	X:131,211,985	T/C	—	uncertain significance
rs2520688715	X:131,211,989	A/G	—	likely benign
rs2124206402	X:131,212,001	C/T	—	uncertain significance
rs755557174	X:131,212,012	C/T	—	likely benign
rs1213344421	X:131,212,013	G/A	—	uncertain significance
rs748600073	X:131,212,022	C/T	—	benign
rs2520689964	X:131,212,066	G/A	—	uncertain significance
rs749522497	X:131,212,072	A/G	—	uncertain significance
rs1927665699	X:131,212,076	T/A	—	uncertain significance
rs924442672	X:131,212,078	T/C	—	uncertain significance
rs1403526198	X:131,212,080	T/C	—	likely benign
rs772834154	X:131,212,084	T/G	—	conflicting classifications of pathogenicity
rs766061063	X:131,212,091	C/T	—	uncertain significance
rs2520690784	X:131,212,096	G/T	—	uncertain significance
rs2520690893	X:131,212,110	A/G	—	likely benign
rs753528994	X:131,212,113	C/G	—	uncertain significance
rs2520691077	X:131,212,120	G/T	—	uncertain significance
rs754604228	X:131,212,121	C/T	—	uncertain significance
rs1243774772	X:131,212,134	C/T	—	uncertain significance
rs764622962	X:131,212,138	A/G	—	uncertain significance
rs758786935	X:131,212,144	G/T	—	uncertain significance
rs1007286079	X:131,212,148	G/A	—	uncertain significance
rs1468926815	X:131,212,173	C/T	—	likely benign
rs751858239	X:131,212,174	G/A	—	uncertain significance
rs1374041967	X:131,212,192	T/A	—	uncertain significance
rs1043882590	X:131,212,196	T/C	—	uncertain significance
rs2520692561	X:131,212,204	G/C	—	uncertain significance
rs1411401871	X:131,212,210	G/C	—	uncertain significance
rs1927674875	X:131,212,216	A/C	—	uncertain significance
rs781449121	X:131,212,229	C/T	—	uncertain significance
rs903939499	X:131,212,231	G/A	—	uncertain significance
rs751994722	X:131,212,246	C/T	—	conflicting classifications of pathogenicity
rs779971174	X:131,212,247	G/A	—	uncertain significance
rs1039105692	X:131,212,251	A/G	—	likely benign
rs748139262	X:131,212,258	A/C	—	uncertain significance
rs951558941	X:131,212,261	T/C	—	uncertain significance
rs2520693882	X:131,212,275	G/T	—	likely benign
rs760487000	X:131,212,278	C/A	—	uncertain significance
rs770847430	X:131,212,279	C/A	—	likely benign
rs1003052816	X:131,212,286	G/A	—	uncertain significance
rs759241920	X:131,212,287	G/A	—	likely benign
rs1927679140	X:131,212,293	C/T	—	likely benign
rs752113123	X:131,212,295	C/T	—	uncertain significance
rs1431505669	X:131,212,298	G/C	—	uncertain significance
rs148279797	X:131,212,304	T/C	—	benign
rs1365091186	X:131,212,314	T/C	—	likely benign
rs752045112	X:131,212,315	G/A	—	uncertain significance
rs757682240	X:131,212,328	T/G	—	uncertain significance
rs781502273	X:131,212,330	G/T	—	uncertain significance
rs750688292	X:131,212,340	C/T	—	conflicting classifications of pathogenicity
rs756241221	X:131,212,353	A/G	—	likely benign
rs1927683604	X:131,212,354	T/C	—	uncertain significance
rs2520695420	X:131,212,357	A/G	—	uncertain significance
rs140383991	X:131,212,370	C/T	—	conflicting classifications of pathogenicity
rs369003419	X:131,212,371	G/T	—	uncertain significance
rs2520695700	X:131,212,376	T/C	—	uncertain significance
rs1308080722	X:131,212,399	A/T	—	uncertain significance
rs770900557	X:131,212,401	T/C	—	likely benign
rs776519156	X:131,212,402	T/G	—	conflicting classifications of pathogenicity
rs1254433483	X:131,212,411	T/C	—	uncertain significance
rs2520696464	X:131,212,415	G/A	—	pathogenic
rs1325331983	X:131,212,420	C/T	—	uncertain significance
rs1343250412	X:131,212,421	T/C	—	uncertain significance
rs1927687704	X:131,212,432	A/C	—	uncertain significance
rs769268395	X:131,212,442	G/C	—	uncertain significance
rs200651852	X:131,212,457	G/A	—	conflicting classifications of pathogenicity
rs2520697592	X:131,212,483	C/T	—	uncertain significance
rs61742429	X:131,212,487	G/C	—	benign
rs762283064	X:131,212,489	G/A	—	conflicting classifications of pathogenicity
rs377188822	X:131,212,501	T/G	—	conflicting classifications of pathogenicity
rs2520698191	X:131,212,508	C/T	—	uncertain significance
rs5977623	X:131,212,512	A/G	—	benign
rs199717232	X:131,212,514	T/C	—	conflicting classifications of pathogenicity
rs766452194	X:131,212,515	T/G	—	likely benign
rs754076102	X:131,212,518	G/A	—	likely benign
rs192322553	X:131,212,540	G/A	—	likely benign
rs2124208438	X:131,212,541	G/A	—	uncertain significance
rs200838126	X:131,212,552	T/A	—	benign

Showing 100 of 362 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.