ARHGEF10

Rho guanine nucleotide exchange factor 10

Summary

This gene encodes a Rho guanine nucleotide exchange factor (GEF). Rho GEFs regulate the activity of small Rho GTPases by stimulating the exchange of guanine diphosphate (GDP) for guanine triphosphate (GTP) and may play a role in neural morphogenesis. Mutations in this gene are associated with slowed nerve conduction velocity (SNCV). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Known Variants658 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs11136431	8:1,791,433	T/C	—	benign
rs775611685	8:1,791,590	C/A	—	uncertain significance
rs1156333922	8:1,791,607	C/T	—	likely benign
rs11136432	8:1,791,638	G/T	—	benign
rs74415378	8:1,791,662	T/C	—	benign
rs11136433	8:1,791,663	G/A	—	benign
rs11136434	8:1,791,672	T/C	—	benign
rs11136435	8:1,791,685	A/G	—	benign
rs149844306	8:1,792,762	A/G	intron variant	—
rs17756499	8:1,805,980	T/C	—	benign
rs11268265	8:1,806,045	G/T	—	benign
rs138713415	8:1,806,116	T/C	—	likely benign
rs201522949	8:1,806,117	T/A	—	likely benign
rs2536833199	8:1,806,138	A/G	—	uncertain significance
rs917315009	8:1,806,143	G/T	—	uncertain significance
rs2536833838	8:1,806,162	A/G	—	uncertain significance
rs950205850	8:1,806,164	G/C	—	uncertain significance
rs547614439	8:1,806,171	G/C	—	uncertain significance
rs567607534	8:1,806,181	C/T	—	likely benign
rs759503562	8:1,806,198	A/G	—	uncertain significance
rs764859351	8:1,806,209	G/T	—	uncertain significance
rs775076236	8:1,806,213	C/T	—	uncertain significance
rs761312396	8:1,806,214	G/A	—	likely benign
rs1467438651	8:1,806,221	C/T	—	uncertain significance
rs778967190	8:1,806,226	C/G	—	likely benign
rs148285858	8:1,806,227	C/T	—	uncertain significance
rs4875950	8:1,806,229	C/A	—	benign
rs559084209	8:1,806,233	G/A	—	uncertain significance
rs775558900	8:1,806,239	G/A	—	uncertain significance
rs762577053	8:1,806,248	G/A	—	uncertain significance
rs768024049	8:1,806,250	T/G	—	likely benign
rs1374095120	8:1,806,255	G/A	—	uncertain significance
rs2536836575	8:1,806,260	A/C	—	uncertain significance
rs111294316	8:1,806,268	C/T	—	benign
rs1022200702	8:1,806,281	G/A	—	uncertain significance
rs777671041	8:1,806,287	T/G	—	uncertain significance
rs76522101	8:1,806,288	T/C	—	likely benign
rs769692992	8:1,806,298	G/C	—	likely benign
rs56203106	8:1,806,333	A/G	—	benign
rs55847035	8:1,806,334	G/A	—	benign
rs55846495	8:1,806,353	T/G	—	benign
rs9801821	8:1,806,372	T/C	—	benign
rs118016818	8:1,806,381	A/G	—	benign
rs62477517	8:1,806,459	G/A	—	benign
rs539338508	8:1,806,513	C/G	—	—
rs3817692	8:1,807,855	A/G	—	benign
rs3817693	8:1,807,864	A/G	—	benign
rs188312311	8:1,808,051	C/T	—	benign
rs367730705	8:1,808,053	G/A	—	likely benign
rs1041759337	8:1,808,059	C/G	—	likely benign
rs763518884	8:1,808,069	A/G	—	uncertain significance
rs2536873816	8:1,808,081	G/C	—	uncertain significance
rs1805953265	8:1,808,092	A/T	—	uncertain significance
rs1029274620	8:1,808,104	G/A	—	uncertain significance
rs2536874560	8:1,808,115	G/C	—	uncertain significance
rs1295144734	8:1,808,119	G/C	—	uncertain significance
rs1805956754	8:1,808,122	C/T	—	uncertain significance
rs778761628	8:1,808,126	C/T	—	uncertain significance
rs145978510	8:1,808,127	G/A	—	likely benign
rs539543107	8:1,808,154	C/T	—	likely benign
rs553433408	8:1,808,155	G/A	—	uncertain significance
rs139804042	8:1,808,162	C/T	—	conflicting classifications of pathogenicity
rs141573110	8:1,808,163	G/A	—	likely benign
rs1805962569	8:1,808,173	G/C	—	uncertain significance
rs2536876329	8:1,808,178	C/G	—	uncertain significance
rs962053220	8:1,808,179	C/A	—	uncertain significance
rs766570885	8:1,808,183	C/T	—	uncertain significance
rs753458702	8:1,808,193	C/T	—	likely benign
rs752653850	8:1,808,194	G/A	—	uncertain significance
rs151043667	8:1,808,199	C/T	—	likely benign
rs751134443	8:1,808,203	G/A	—	conflicting classifications of pathogenicity
rs144837696	8:1,808,209	G/A	—	likely benign
rs1585296361	8:1,808,212	G/T	—	uncertain significance
rs2129075010	8:1,808,218	G/A	—	uncertain significance
rs199804539	8:1,808,221	G/T	—	likely benign
rs779284070	8:1,808,229	T/C	—	likely benign
rs2536877603	8:1,808,234	C/T	—	uncertain significance
rs760883718	8:1,808,239	G/A	—	uncertain significance
rs2536877800	8:1,808,245	T/G	—	uncertain significance
rs749822	8:1,808,256	G/A	—	benign
rs151080025	8:1,808,270	C/T	—	conflicting classifications of pathogenicity
rs2129075111	8:1,808,272	G/A	—	uncertain significance
rs755728908	8:1,808,275	C/A	—	uncertain significance
rs140941264	8:1,808,284	C/G	—	uncertain significance
rs747476397	8:1,808,289	C/T	—	likely benign
rs770934547	8:1,808,290	C/G	—	uncertain significance
rs144697825	8:1,808,295	G/T	—	likely benign
rs758217784	8:1,808,301	C/T	—	likely benign
rs533580747	8:1,808,302	G/A	—	likely benign
rs1027692628	8:1,808,314	C/T	—	uncertain significance
rs766944309	8:1,808,315	C/T	—	uncertain significance
rs530470887	8:1,808,316	G/A	—	likely benign
rs766186644	8:1,808,319	C/T	—	likely benign
rs753508179	8:1,808,320	A/G	—	uncertain significance
rs1805981433	8:1,808,325	C/G	—	uncertain significance
rs201433824	8:1,808,329	G/A	—	conflicting classifications of pathogenicity
rs368908745	8:1,808,334	G/A	—	likely benign
rs147914724	8:1,808,343	C/T	—	benign
rs140947400	8:1,808,379	G/A	intron variant	—
rs13275000	8:1,808,439	C/G	—	benign

Showing 100 of 658 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.