rs370910619

This variant is located in the COL6A5 gene.

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ClinVar annotation

Likely Benign★☆☆☆
1 submitter

not specified

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About COL6A5

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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