The RPGRIP1L gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol RPGRIP1L
Gene name RPGRIP1-like
Chromosome 16
Chromosomal band q12.2
Imprinted Unknown
Genomic reference NC_000016.9
Transcript reference NM_015272.2
Exon/intron information NM_015272.2 exon/intron table
Associated with diseases COACH, ID, JBTS7, MKS, MKS5
Citation reference(s) PubMed: Delous 2007
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 229
Unique public DNA variants reported 153
Individuals with public variants 351
Hidden variants 5
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
We gratefully acknowledge the support of Juha Muilu acting as curator until 2015.
Date created February 13, 2012
Date last updated November 28, 2023
Version RPGRIP1L:231128

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_015272.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 29168
Entrez Gene 23322
PubMed articles RPGRIP1L
OMIM - Gene 610937
OMIM - Diseases COACH (COACH syndrome)
JBTS7 (Joubert syndrome, type 7 (JBTS-7))
MKS5 (Meckel syndrome, type 5)
GeneCards RPGRIP1L
GeneTests RPGRIP1L
Orphanet RPGRIP1L

Active transcripts




NCBI ID     

NCBI Protein ID     

00000083 16 RPGRIP1-like, transcript variant 1 NM_015272.2 NP_056087.2 229

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2023. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.