COL17A1 gene homepage

General information
Gene symbol COL17A1
Gene name collagen, type XVII, alpha 1
Chromosome 10
Chromosomal band q24.3
Imprinted Unknown
Genomic reference NG_007069.1
Transcript reference NM_000494.3
Exon/intron information NM_000494.3 exon/intron table
Associated with diseases epidermolysis bullosa, junctional, non-Herlitz type
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 52
Unique public DNA variants reported 48
Individuals with public variants 3
Hidden variants 4
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated June 28, 2019
Version COL17A1:190628

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_000494.3.
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
External URL Orphanet
HGNC 2194
Entrez Gene 1308
PubMed articles COL17A1
OMIM - Gene 113811
OMIM - Diseases epidermolysis bullosa, junctional, non-Herlitz type
HGMD COL17A1
GeneCards COL17A1
GeneTests COL17A1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000168 10 collagen, type XVII, alpha 1 NM_000494.3 NP_000485.3 52


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