RPGRIP1

RPGR interacting protein 1

Summary

This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]

Known Variants813 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2139132081	14:21,756,143	A/G	—	uncertain significance
rs1462796890	14:21,756,145	C/A	—	uncertain significance
rs1880359213	14:21,756,147	G/A	—	likely benign
rs756665749	14:21,756,164	G/A	—	conflicting classifications of pathogenicity
rs769066205	14:21,756,174	A/G	—	likely benign
rs201384449	14:21,756,185	T/C	—	conflicting classifications of pathogenicity
rs1880361510	14:21,756,189	T/C	—	likely benign
rs1032222606	14:21,756,196	C/T	—	uncertain significance
rs199590641	14:21,756,209	C/T	—	conflicting classifications of pathogenicity
rs1452708906	14:21,756,210	A/G	—	likely benign
rs187598648	14:21,756,212	C/T	—	uncertain significance
rs569126479	14:21,756,215	C/T	—	uncertain significance
rs763401090	14:21,756,220	G/A	—	uncertain significance
rs1594369617	14:21,756,225	C/A	—	uncertain significance
rs538409092	14:21,756,231	C/T	—	likely benign
rs201152775	14:21,756,232	G/A	—	likely benign
rs761987893	14:21,756,240	A/T	—	likely benign
rs145863059	14:21,762,571	T/C	—	benign
rs372867069	14:21,762,816	A/T	—	benign
rs200968268	14:21,762,835	G/A	—	likely pathogenic
rs2139144559	14:21,762,844	A/G	—	uncertain significance
rs200510462	14:21,762,845	T/A	—	conflicting classifications of pathogenicity
rs767737125	14:21,762,849	A/G	—	likely benign
rs189509077	14:21,762,857	C/A	—	uncertain significance
rs749943816	14:21,762,860	C/A	—	likely benign
rs758465870	14:21,762,861	C/A	—	likely benign
rs376435824	14:21,762,866	G/A	—	uncertain significance
rs751975588	14:21,762,877	C/T	—	uncertain significance
rs762187880	14:21,762,878	G/C	—	uncertain significance
rs777888377	14:21,762,886	T/C	—	likely benign
rs371044065	14:21,762,887	T/C	—	uncertain significance
rs2139144675	14:21,762,890	A/G	—	uncertain significance
rs770933786	14:21,762,891	G/A	—	likely benign
rs199606938	14:21,762,903	T/C	—	likely benign
rs192003551	14:21,762,904	C/T	stop gained	pathogenic
rs374171080	14:21,762,905	G/A	—	uncertain significance
rs376250340	14:21,762,911	G/A	—	uncertain significance
rs765765074	14:21,762,912	C/T	—	likely benign
rs530008238	14:21,762,913	G/A	—	uncertain significance
rs2502690271	14:21,762,922	A/G	—	uncertain significance
rs1413728875	14:21,762,923	T/C	—	uncertain significance
rs2502690333	14:21,762,931	A/G	—	uncertain significance
rs1192734148	14:21,762,932	A/G	—	uncertain significance
rs976713441	14:21,762,934	G/A	—	uncertain significance
rs777977490	14:21,762,939	T/C	—	likely benign
rs1880692860	14:21,762,941	C/T	—	uncertain significance
rs137853124	14:21,762,944	G/A	stop gained	pathogenic
rs62646878	14:21,762,945	G/A	—	not provided
rs1880693286	14:21,762,953	A/G	—	uncertain significance
rs546692544	14:21,762,969	G/T	—	likely pathogenic
rs2502690439	14:21,762,970	T/A	—	pathogenic
rs370643056	14:21,762,974	T/C	—	uncertain significance
rs772456915	14:21,762,977	A/G	—	likely benign
rs200225522	14:21,762,981	C/G	—	conflicting classifications of pathogenicity
rs1399266958	14:21,769,108	G/T	—	likely benign
rs1880998821	14:21,769,109	C/T	—	likely benign
rs755936973	14:21,769,121	A/G	—	likely benign
rs1880999471	14:21,769,123	A/G	—	likely pathogenic
rs2502705187	14:21,769,144	C/G	—	uncertain significance
rs1881000292	14:21,769,146	G/A	—	likely benign
rs371371555	14:21,769,151	C/T	—	uncertain significance
rs62646879	14:21,769,162	C/T	—	likely benign
rs769162918	14:21,769,168	C/T	—	uncertain significance
rs777112076	14:21,769,171	C/A	—	likely benign
rs530125171	14:21,769,172	G/A	—	uncertain significance
rs1025250925	14:21,769,173	G/A	—	likely benign
rs1057519200	14:21,769,174	G/A	—	conflicting classifications of pathogenicity
rs201269438	14:21,769,176	C/T	—	likely benign
rs2502705286	14:21,769,183	G/C	—	uncertain significance
rs1040904	14:21,769,193	C/A	—	benign
rs1337129272	14:21,769,199	C/T	—	uncertain significance
rs1436942223	14:21,769,201	G/C	—	uncertain significance
rs2502705371	14:21,769,214	G/C	—	uncertain significance
rs377018856	14:21,769,216	G/C	—	uncertain significance
rs2139156519	14:21,769,219	C/T	—	pathogenic
rs2502705395	14:21,769,226	C/A	—	uncertain significance
rs1252806078	14:21,769,228	G/A	—	uncertain significance
rs765387527	14:21,769,234	C/T	—	uncertain significance
rs1566671532	14:21,769,241	G/A	—	uncertain significance
rs1429217156	14:21,769,243	C/G	—	uncertain significance
rs758436075	14:21,769,245	C/A	—	likely benign
rs1192070874	14:21,769,246	T/C	—	uncertain significance
rs752159774	14:21,769,250	T/G	—	uncertain significance
rs1881007221	14:21,769,258	C/A	—	uncertain significance
rs369530487	14:21,769,259	G/A	—	uncertain significance
rs770129842	14:21,769,262	C/T	—	uncertain significance
rs372557648	14:21,769,281	A/G	—	likely benign
rs375226924	14:21,769,282	G/C	—	uncertain significance
rs2139156675	14:21,769,286	A/G	—	uncertain significance
rs547876047	14:21,769,292	A/T	—	uncertain significance
rs2139156699	14:21,769,300	G/T	—	uncertain significance
rs1267163203	14:21,769,309	A/G	—	uncertain significance
rs1429612086	14:21,769,311	C/T	—	likely benign
rs1401332285	14:21,769,316	G/A	—	uncertain significance
rs763210717	14:21,769,321	G/C	—	uncertain significance
rs1169371081	14:21,769,322	C/T	—	uncertain significance
rs1405988307	14:21,769,323	C/G	—	likely benign
rs2139156763	14:21,769,326	G/A	—	likely benign
rs766604917	14:21,769,333	G/A	—	uncertain significance
rs751684215	14:21,769,338	A/G	—	uncertain significance

Showing 100 of 813 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.