The CRB1 gene homepage

General information
Gene symbol CRB1
Gene name crumbs family member 1, photoreceptor morphogenesis associated
Chromosome 1
Chromosomal band q31-q32.1
Imprinted Unknown
Genomic reference NG_008483.1
Transcript reference NM_001193640.1, NM_001257965.1, NM_001257966.1, NM_201253.2, NR_047563.1, NR_047564.1
Associated with diseases LCA-8, PPCRA, RP-12
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 102
Unique public DNA variants reported 12
Individuals with public variants 35
Hidden variants 156
Date created November 30, -0001
Date last updated September 28, 2016
Version CRB1:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:2343
Entrez Gene 23418
PubMed articles CRB1
OMIM - Gene 604210
OMIM - Diseases LCA-8 (Leber congenital amaurosis, type 8 (LCA-8))
PPCRA (atrophy, chorioretinal, pigmented paravenous (PPCRA))
RP-12 (retinitis pigmentosa, with/without PPRPE, type 12 (RP-12))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00010960 1 crumbs homolog 1 (Drosophila), transcript variant 3 NM_001257965.1 NP_001244894.1 102
00010961 1 crumbs homolog 1 (Drosophila), transcript variant 1 NM_201253.2 NP_957705.1 95
00010962 1 crumbs homolog 1 (Drosophila), transcript variant 4 NM_001257966.1 NP_001244895.1 92
00010963 1 crumbs homolog 1 (Drosophila), transcript variant 2 NM_001193640.1 NP_001180569.1 63
00032619 1 crumbs homolog 1 (Drosophila), transcript variant 6 NR_047564.1 - -
00032620 1 crumbs homolog 1 (Drosophila), transcript variant 5 NR_047563.1 - -