The C8orf37 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol C8orf37
Gene name chromosome 8 open reading frame 37
Chromosome 8
Chromosomal band q22.1
Imprinted Unknown
Genomic reference NG_032804.1
Transcript reference NM_177965.3
Exon/intron information NM_177965.3 exon/intron table
Associated with diseases BBS, BBS21, CORD16, retinal disease
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Kornelia Neveling
Total number of public variants reported 61
Unique public DNA variants reported 31
Individuals with public variants 77
Hidden variants 0
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 June 08, 2012
Date last updated October 20, 2021
Version C8orf37:211020

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_177965.3.
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/C8orf37
HGNC 27232
Entrez Gene 157657
PubMed articles C8orf37
OMIM - Gene 614477
OMIM - Diseases BBS21 (syndrome, Bardet-Biedl, type 21 (BBS21))
CORD16 (RP64)
HGMD C8orf37
GeneCards C8orf37
GeneTests C8orf37
Orphanet C8orf37


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00003847 8 chromosome 8 open reading frame 37 NM_177965.3 NP_808880.1 61


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