OPHN1

oligophrenin 1

Summary

This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked cognitive disability with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008]

Known Variants330 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2768572	X:67,268,017	T/C	—	benign
rs1338314674	X:67,268,274	C/A	—	uncertain significance
rs2519611593	X:67,268,283	G/A	—	uncertain significance
rs2076839539	X:67,268,287	T/A	—	uncertain significance
rs939842783	X:67,268,290	G/T	—	likely benign
rs2147343766	X:67,268,295	G/A	—	uncertain significance
rs201592664	X:67,268,318	G/A	—	benign
rs2148827	X:67,268,376	C/A	—	benign
rs2519617446	X:67,272,373	A/T	—	likely benign
rs777085282	X:67,272,375	A/G	—	likely benign
rs192628082	X:67,272,394	C/T	—	uncertain significance
rs148208753	X:67,272,395	G/A	—	likely benign
rs1429212507	X:67,272,436	C/A	—	likely benign
rs2519617689	X:67,272,440	C/T	—	likely benign
rs1366966984	X:67,272,451	C/A	—	likely benign
rs771217604	X:67,273,467	T/G	—	likely benign
rs144475530	X:67,273,477	C/A	—	benign
rs2076860838	X:67,273,491	A/G	—	uncertain significance
rs1403350105	X:67,273,495	T/C	—	conflicting classifications of pathogenicity
rs1451445409	X:67,273,496	G/A	—	uncertain significance
rs2519619386	X:67,273,501	T/A	—	uncertain significance
rs748176965	X:67,273,504	C/T	—	likely benign
rs200659608	X:67,273,508	G/A	—	likely benign
rs772662176	X:67,273,523	A/G	—	uncertain significance
rs2519619548	X:67,273,536	G/C	—	uncertain significance
rs766009632	X:67,273,546	T/C	—	likely benign
rs765116282	X:67,273,562	C/T	—	uncertain significance
rs371280317	X:67,273,563	G/A	—	benign
rs777864085	X:67,273,580	G/A	—	uncertain significance
rs757481934	X:67,273,587	C/A	—	uncertain significance
rs2076861554	X:67,273,591	G/C	—	likely benign
rs781261311	X:67,273,594	G/T	—	likely benign
rs770024232	X:67,273,595	C/T	—	uncertain significance
rs780427271	X:67,273,596	G/A	—	uncertain significance
rs993015202	X:67,273,622	G/A	—	uncertain significance
rs774903073	X:67,273,625	C/T	—	uncertain significance
rs1265135988	X:67,273,626	G/A	—	uncertain significance
rs760163301	X:67,273,641	T/C	—	conflicting classifications of pathogenicity
rs2519619803	X:67,273,642	G/C	—	benign
rs374431961	X:67,273,643	T/C	—	conflicting classifications of pathogenicity
rs2519619827	X:67,273,649	T/A	—	uncertain significance
rs2147349266	X:67,273,653	C/G	—	pathogenic
rs587784233	X:67,273,656	G/A	—	uncertain significance
rs1410127	X:67,280,381	C/T	regulatory region variant	—
rs2519631601	X:67,283,704	T/C	—	uncertain significance
rs2147359836	X:67,283,705	G/A	—	uncertain significance
rs367788584	X:67,283,710	G/A	—	likely benign
rs200508660	X:67,283,719	C/T	—	likely benign
rs1247929748	X:67,283,720	G/A	—	uncertain significance
rs1030545345	X:67,283,722	G/A	—	conflicting classifications of pathogenicity
rs2076902830	X:67,283,725	G/A	—	uncertain significance
rs2519631768	X:67,283,749	G/T	—	uncertain significance
rs1343441591	X:67,283,752	G/A	—	uncertain significance
rs2519631818	X:67,283,756	T/C	—	uncertain significance
rs2519631842	X:67,283,764	C/A	—	uncertain significance
rs36095561	X:67,283,775	C/T	—	likely benign
rs1602131615	X:67,283,778	G/C	—	likely benign
rs745381936	X:67,283,779	G/T	—	uncertain significance
rs2519631922	X:67,283,781	T/C	—	likely benign
rs199985543	X:67,283,792	C/A	—	likely benign
rs139691746	X:67,283,798	G/A	—	likely benign
rs1555930474	X:67,283,805	C/G	—	uncertain significance
rs1300359418	X:67,283,817	A/C	—	uncertain significance
rs869312676	X:67,283,819	C/T	missense variant	pathogenic
rs143713841	X:67,283,825	G/T	—	conflicting classifications of pathogenicity
rs1023161053	X:67,283,830	G/A	—	uncertain significance
rs139638690	X:67,283,835	C/G	—	uncertain significance
rs1242244215	X:67,283,838	C/A	—	uncertain significance
rs149759545	X:67,283,846	C/T	—	uncertain significance
rs372445201	X:67,283,847	G/A	—	likely benign
rs754104441	X:67,283,851	A/G	—	uncertain significance
rs1450703291	X:67,283,876	C/G	—	uncertain significance
rs2076903989	X:67,283,892	G/T	—	uncertain significance
rs2519632257	X:67,283,897	G/T	—	uncertain significance
rs748534360	X:67,283,899	G/A	—	conflicting classifications of pathogenicity
rs1555930507	X:67,283,908	C/T	—	uncertain significance
rs2147360293	X:67,283,925	A/C	—	uncertain significance
rs745376525	X:67,283,941	A/C	—	uncertain significance
rs794727340	X:67,283,951	G/T	—	uncertain significance
rs1461563916	X:67,283,960	G/A	—	uncertain significance
rs775261678	X:67,283,964	G/C	—	likely benign
rs866834118	X:67,283,965	G/T	—	uncertain significance
rs2147360438	X:67,283,987	T/C	—	uncertain significance
rs1175919760	X:67,283,998	G/A	—	uncertain significance
rs1407090127	X:67,284,006	A/G	—	likely benign
rs146588152	X:67,284,015	T/C	—	likely benign
rs41303731	X:67,284,113	G/T	—	benign
rs180912287	X:67,292,807	A/G	—	likely benign
rs1437028889	X:67,292,981	C/G	—	likely benign
rs1253923818	X:67,292,993	C/A	—	pathogenic
rs778332586	X:67,292,997	C/T	—	conflicting classifications of pathogenicity
rs368803937	X:67,292,998	G/A	—	conflicting classifications of pathogenicity
rs2519645335	X:67,292,999	C/G	—	uncertain significance
rs779671497	X:67,293,014	G/A	—	uncertain significance
rs372951407	X:67,293,028	C/A	—	likely benign
rs189644845	X:67,293,029	G/A	—	benign
rs747973715	X:67,293,040	C/A	—	likely benign
rs2519645392	X:67,293,045	A/G	—	likely benign
rs139612280	X:67,293,047	C/T	—	uncertain significance
rs144345572	X:67,293,048	G/A	—	benign

Showing 100 of 330 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.