The COL5A1 gene homepage

General information
Gene symbol COL5A1
Gene name collagen, type V, alpha 1
Chromosome 9
Chromosomal band q34.2-q34.3
Imprinted Unknown
Genomic reference NG_008030.1
Transcript reference NM_000093.3, NM_001278074.1
Associated with diseases EDS, EDS-2
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 718
Unique public DNA variants reported 78
Individuals with public variants 35
Hidden variants 165
Date created November 30, -0001
Date last updated September 28, 2016
Version COL5A1:160928

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:2209
Entrez Gene 1289
PubMed articles COL5A1
OMIM - Gene 120215
OMIM - Diseases EDS (Ehlers-Danlos syndrome)
EDS-2 (Ehlers-Danlos syndrome, type 2 (EDS-2))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00016410 9 Manually created transcript. (expired, new version available) NM_000093.3 - 718
00047469 9 transcript variant 2 NM_001278074.1 NP_001265003.1 717