COL6A5 Chromosome 3
Collagen type VI alpha 5 chain
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What This Gene Does
This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Gene Info
Gene Group
Collagens
Locus Type
gene with protein product
Location
3q22.1
Ensembl
ENSG00000172752
Associated Conditions (1)
COL6A5-related disorder
Key Variants
RS1365249537
Conflicting classifications of pathogenicity
Health Risk
RS140721388
Conflicting classifications of pathogenicity
Health Risk
RS190666668
Conflicting classifications of pathogenicity
COL6A5-related disorder, COL6A5-related disorder
Health Risk
RS374746006
Conflicting classifications of pathogenicity
Health Risk
RS543746446
Conflicting classifications of pathogenicity
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1365249537 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140721388 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS190666668 | Health Risk | Conflicting classifications of pathogenicity | COL6A5-related disorder, COL6A5-related disorder |
| RS374746006 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS543746446 | Health Risk | Conflicting classifications of pathogenicity | — |