RPGRIP1L

RPGRIP1 like

Summary

The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]

Known Variants1,436 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886052086	16:53,634,105	G/C	—	uncertain significance
rs1224541215	16:53,634,119	T/C	—	uncertain significance
rs1946155	16:53,634,295	C/T	—	benign
rs144554139	16:53,634,343	T/A	—	uncertain significance
rs188203905	16:53,634,361	C/T	—	conflicting classifications of pathogenicity
rs1963334195	16:53,634,391	C/T	—	uncertain significance
rs151226475	16:53,634,404	C/A	—	conflicting classifications of pathogenicity
rs140374059	16:53,634,478	C/T	—	uncertain significance
rs192765976	16:53,634,506	C/T	—	uncertain significance
rs184079732	16:53,634,527	T/A	—	uncertain significance
rs150194508	16:53,634,603	T/C	—	uncertain significance
rs145688896	16:53,634,679	G/T	—	uncertain significance
rs375800554	16:53,634,712	C/T	—	uncertain significance
rs561880798	16:53,634,781	C/T	—	uncertain significance
rs1437795784	16:53,634,782	G/A	—	uncertain significance
rs763384255	16:53,634,953	A/G	—	uncertain significance
rs145688122	16:53,634,955	C/T	—	conflicting classifications of pathogenicity
rs886052087	16:53,635,008	A/G	—	uncertain significance
rs750903762	16:53,635,087	T/C	—	uncertain significance
rs886052088	16:53,635,113	T/C	—	uncertain significance
rs138437010	16:53,635,137	G/T	—	uncertain significance
rs1963365021	16:53,635,142	T/A	—	uncertain significance
rs554221378	16:53,635,166	T/C	—	uncertain significance
rs3760008	16:53,635,251	A/C	—	benign
rs545786772	16:53,635,290	A/G	—	uncertain significance
rs886052089	16:53,635,362	T/G	—	uncertain significance
rs894081042	16:53,635,400	T/C	—	uncertain significance
rs184520009	16:53,635,456	A/G	—	uncertain significance
rs778362441	16:53,635,482	A/C	—	uncertain significance
rs35669682	16:53,635,497	G/C	—	conflicting classifications of pathogenicity
rs886052090	16:53,635,570	C/T	—	uncertain significance
rs544840421	16:53,635,656	A/C	—	uncertain significance
rs549065732	16:53,635,718	C/T	—	uncertain significance
rs190566840	16:53,635,719	G/A	—	uncertain significance
rs563237818	16:53,635,726	C/T	—	uncertain significance
rs1963395143	16:53,635,829	A/C	—	uncertain significance
rs1963396187	16:53,635,855	A/T	—	uncertain significance
rs868861934	16:53,635,863	C/A	—	uncertain significance
rs886052091	16:53,635,869	G/A	—	uncertain significance
rs770837632	16:53,635,881	C/T	—	uncertain significance
rs4784319	16:53,635,933	A/T	3 prime UTR variant	benign
rs1963400312	16:53,635,935	C/T	—	uncertain significance
rs749041133	16:53,635,997	C/T	—	likely benign
rs4784320	16:53,636,000	G/A	—	benign
rs1963404223	16:53,636,001	T/G	—	uncertain significance
rs547718820	16:53,636,008	T/C	—	conflicting classifications of pathogenicity
rs139246920	16:53,636,016	T/C	—	uncertain significance
rs2150909277	16:53,636,024	A/G	—	likely benign
rs773361667	16:53,636,033	G/T	—	uncertain significance
rs1446259139	16:53,636,035	C/T	—	uncertain significance
rs915393428	16:53,636,039	G/C	—	likely benign
rs777088047	16:53,636,047	C/T	—	uncertain significance
rs1963406998	16:53,636,048	G/A	—	likely benign
rs946895541	16:53,636,049	A/T	—	uncertain significance
rs1285970142	16:53,636,050	C/T	—	uncertain significance
rs759935029	16:53,636,054	T/C	—	conflicting classifications of pathogenicity
rs1203979901	16:53,636,056	C/T	—	uncertain significance
rs776074152	16:53,636,058	C/G	—	uncertain significance
rs761483020	16:53,636,062	G/A	—	uncertain significance
rs2150909430	16:53,636,072	A/G	—	likely benign
rs201132156	16:53,636,078	A/G	—	likely benign
rs755820734	16:53,636,079	C/A	—	uncertain significance
rs753647152	16:53,636,088	C/T	—	uncertain significance
rs754697392	16:53,636,089	G/T	—	likely benign
rs2150909524	16:53,636,091	G/A	—	uncertain significance
rs2150909535	16:53,636,092	C/T	—	uncertain significance
rs377402117	16:53,636,097	A/G	—	conflicting classifications of pathogenicity
rs2150909559	16:53,636,099	A/C	—	likely benign
rs1233984342	16:53,636,104	G/T	—	likely benign
rs1442171704	16:53,636,105	G/A	—	likely benign
rs886038620	16:53,636,113	G/C	—	likely benign
rs777880156	16:53,636,115	G/T	—	likely benign
rs2543661379	16:53,636,116	C/T	—	likely benign
rs1963411897	16:53,636,118	G/A	—	likely benign
rs1276455735	16:53,636,119	G/C	—	likely benign
rs1399609128	16:53,636,120	A/G	—	likely benign
rs4784321	16:53,636,409	C/T	—	benign
rs11862484	16:53,639,070	G/A	—	likely benign
rs77008584	16:53,639,208	G/T	—	benign
rs372264184	16:53,639,374	G/A	—	likely benign
rs770332770	16:53,639,375	C/A	—	likely benign
rs1210699492	16:53,639,378	C/T	—	likely benign
rs1449022699	16:53,639,379	A/G	—	likely benign
rs776026998	16:53,639,380	C/T	—	conflicting classifications of pathogenicity
rs2543681005	16:53,639,381	T/A	—	likely benign
rs754798360	16:53,639,388	C/T	—	uncertain significance
rs769218955	16:53,639,390	T/C	—	uncertain significance
rs2543681128	16:53,639,392	C/T	—	uncertain significance
rs370655253	16:53,639,396	C/T	—	uncertain significance
rs760294595	16:53,639,397	G/A	—	likely benign
rs770410795	16:53,639,399	T/C	—	uncertain significance
rs1432386308	16:53,639,400	A/G	—	likely benign
rs1963622750	16:53,639,401	T/C	—	uncertain significance
rs776310931	16:53,639,404	T/C	—	uncertain significance
rs1244061656	16:53,639,409	A/C	—	uncertain significance
rs764832127	16:53,639,410	A/G	—	uncertain significance
rs2543681449	16:53,639,412	G/A	—	likely benign
rs2543681468	16:53,639,415	G/A	—	likely benign
rs1963624413	16:53,639,419	C/T	—	uncertain significance
rs2543681552	16:53,639,423	C/T	—	uncertain significance

Showing 100 of 1,436 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.