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_000093.4, NM_001278074.1
Exon/intron information NM_000093.4 exon/intron table
Associated with diseases EDS, EDSCL1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Raymond Dalgleish and Wei Kheng Teh
Total number of public variants reported 274
Unique public DNA variants reported 212
Individuals with public variants 128
Hidden variants 8
Download all this gene's data Download all data
Notes The work leading to the establishment of this LSDB was supported by the European Commission's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created October 06, 2009
Date last updated July 09, 2020
Version COL5A1:200709

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_000093.4.
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 http://www.LOVD.nl/COL5A1
External URL GeneTests
HGNC 2209
Entrez Gene 1289
PubMed articles COL5A1
OMIM - Gene 120215
OMIM - Diseases EDSCL1 (syndrome, Ehlers-Danlos, classic, type 1 (EDSCL1))
HGMD COL5A1
GeneCards COL5A1
GeneTests COL5A1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024134 9 transcript variant 1 NM_000093.4 NP_000084.3 274
00025528 9 transcript variant 2 NM_001278074.1 NP_001265003.1 8


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