ARHGEF9

Cdc42 guanine nucleotide exchange factor 9

Summary

The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. This brain-specific protein also acts as an adaptor protein for the recruitment of gephyrin and together these proteins facilitate receceptor recruitement in GABAnergic and glycinergic synapses. Defects in this gene are the cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy, as well as several other types of cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

Known Variants366 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs189661969	X:62,855,224	T/C	—	uncertain significance
rs782358245	X:62,857,762	C/G	—	likely benign
rs202232026	X:62,857,901	G/C	—	likely benign
rs2047401810	X:62,857,919	A/G	—	uncertain significance
rs2147113839	X:62,857,922	G/A	—	uncertain significance
rs2519458907	X:62,857,929	C/T	—	likely benign
rs2519458936	X:62,857,932	G/A	—	benign
rs2047402332	X:62,857,934	T/C	—	conflicting classifications of pathogenicity
rs1556300759	X:62,857,940	T/G	—	uncertain significance
rs1556300769	X:62,857,944	C/T	—	uncertain significance
rs1556300785	X:62,857,947	G/C	—	uncertain significance
rs145815177	X:62,857,950	T/A	—	likely benign
rs782806516	X:62,857,962	G/A	—	likely benign
rs781858542	X:62,857,963	C/T	—	uncertain significance
rs782129771	X:62,857,974	G/A	—	likely benign
rs2147114132	X:62,857,980	C/A	—	uncertain significance
rs2147114173	X:62,857,983	A/C	—	conflicting classifications of pathogenicity
rs2147114206	X:62,857,988	C/T	—	conflicting classifications of pathogenicity
rs371200226	X:62,857,990	T/C	—	likely benign
rs782580975	X:62,857,992	C/T	—	likely benign
rs782665661	X:62,857,998	A/G	—	likely benign
rs1556301016	X:62,858,000	C/T	—	uncertain significance
rs781904925	X:62,858,001	G/A	—	likely benign
rs1365914320	X:62,858,006	C/T	—	uncertain significance
rs374753195	X:62,858,007	G/A	—	likely benign
rs782577519	X:62,858,009	C/T	—	conflicting classifications of pathogenicity
rs782206916	X:62,858,010	G/A	—	likely benign
rs2519459917	X:62,858,011	G/A	—	uncertain significance
rs369081815	X:62,858,015	C/G	—	likely benign
rs1371313485	X:62,858,027	C/T	—	uncertain significance
rs782395885	X:62,858,028	G/A	—	likely benign
rs2147114604	X:62,858,032	T/C	—	uncertain significance
rs782097997	X:62,858,037	C/T	—	likely benign
rs2047412000	X:62,858,038	G/A	—	uncertain significance
rs2519460414	X:62,858,045	G/A	—	uncertain significance
rs782705959	X:62,858,046	C/T	—	likely benign
rs371605184	X:62,858,047	G/A	—	benign
rs1556301359	X:62,858,060	A/G	—	uncertain significance
rs2147114796	X:62,858,063	G/A	—	uncertain significance
rs782206262	X:62,858,071	G/C	—	pathogenic
rs2519460813	X:62,858,074	C/T	—	uncertain significance
rs1556301404	X:62,858,075	G/A	—	uncertain significance
rs781870482	X:62,858,078	C/A	—	benign
rs2147114917	X:62,858,083	T/C	—	uncertain significance
rs1556301481	X:62,858,093	G/C	—	likely benign
rs1181371428	X:62,858,094	A/G	—	likely benign
rs1602145711	X:62,858,096	T/C	—	likely benign
rs2047417425	X:62,858,101	G/A	—	likely benign
rs2519461278	X:62,858,103	G/T	—	likely benign
rs12558527	X:62,863,636	C/T	—	benign
rs141945280	X:62,863,697	G/A	—	likely benign
rs782653539	X:62,863,842	T/C	—	likely benign
rs1556309537	X:62,863,847	G/A	—	likely benign
rs782212638	X:62,863,849	G/A	—	likely benign
rs2519503316	X:62,863,858	A/T	—	uncertain significance
rs1602179094	X:62,863,861	T/C	—	uncertain significance
rs782354481	X:62,863,864	T/C	—	likely benign
rs2519503504	X:62,863,872	G/A	—	uncertain significance
rs2519503575	X:62,863,888	C/A	—	uncertain significance
rs2519503674	X:62,863,896	C/G	—	uncertain significance
rs2519503706	X:62,863,899	G/A	—	pathogenic
rs141815718	X:62,863,920	T/C	—	likely benign
rs2147143845	X:62,863,924	A/T	—	uncertain significance
rs2147143865	X:62,863,928	C/A	—	uncertain significance
rs2147143891	X:62,863,938	A/G	—	likely benign
rs782417263	X:62,863,945	T/A	—	likely benign
rs576608472	X:62,863,959	T/C	—	likely benign
rs56401522	X:62,863,977	A/C	—	benign
rs55980103	X:62,864,118	C/T	—	benign
rs1556334553	X:62,875,356	T/C	—	likely benign
rs782648725	X:62,875,358	C/A	—	benign
rs2519615636	X:62,875,369	C/A	—	uncertain significance
rs2048820687	X:62,875,374	C/T	—	uncertain significance
rs2519615862	X:62,875,395	C/A	—	uncertain significance
rs1569441733	X:62,875,401	T/C	—	uncertain significance
rs782387990	X:62,875,402	C/T	—	likely benign
rs2147217896	X:62,875,419	C/G	—	uncertain significance
rs2519616140	X:62,875,426	C/T	—	pathogenic
rs2519616169	X:62,875,427	C/T	—	pathogenic
rs1556334685	X:62,875,438	T/C	—	likely benign
rs2519616514	X:62,875,444	C/T	—	likely benign
rs2048824581	X:62,875,447	C/A	—	uncertain significance
rs781947373	X:62,875,450	C/T	—	likely benign
rs1085307842	X:62,875,457	A/G	—	uncertain significance
rs2147218180	X:62,875,462	C/T	—	likely benign
rs56110425	X:62,875,470	T/C	—	likely benign
rs1057521807	X:62,875,477	A/T	—	likely benign
rs2519616928	X:62,875,486	G/C	—	uncertain significance
rs2147218280	X:62,875,487	T/C	—	uncertain significance
rs2519617015	X:62,875,489	G/A	—	likely benign
rs2519617052	X:62,875,492	A/C	—	likely benign
rs1556334802	X:62,875,501	G/A	—	likely benign
rs2048826532	X:62,875,502	G/A	—	uncertain significance
rs781988728	X:62,875,512	T/C	—	conflicting classifications of pathogenicity
rs2048827604	X:62,875,515	T/G	—	uncertain significance
rs1556334879	X:62,875,520	T/C	—	uncertain significance
rs2519617475	X:62,875,537	G/T	—	likely benign
rs2519617526	X:62,875,538	C/T	—	uncertain significance
rs2147218558	X:62,875,545	C/A	—	pathogenic
rs2048828709	X:62,875,546	A/C	—	uncertain significance

Showing 100 of 366 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.