The RP1L1 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol RP1L1
Gene name retinitis pigmentosa 1-like 1
Chromosome 8
Chromosomal band p23.1
Imprinted Unknown
Genomic reference NG_028035.1
Transcript reference NM_178857.5
Exon/intron information NM_178857.5 exon/intron table
Associated with diseases OCMD, RP88
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Jacopo Celli
Total number of public variants reported 833
Unique public DNA variants reported 521
Individuals with public variants 11652
Hidden variants 23
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 performed by Johan den Dunnen, supported by Global Variome.
Date created November 24, 2010
Date last updated May 09, 2022
Version RP1L1:220509

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_178857.5.
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 https://www.LOVD.nl/RP1L1
HGNC 15946
Entrez Gene 94137
PubMed articles RP1L1
OMIM - Gene 608581
OMIM - Diseases OCMD (dystrophy, macular, occult (OCMD))
RP88 (retinitis pigmentosa, type 88)
HGMD RP1L1
GeneCards RP1L1
GeneTests RP1L1
Orphanet RP1L1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00018053 8 retinitis pigmentosa 1-like 1 NM_178857.5 NP_849188.4 833


Copyright & disclaimer
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