Variant: rs863223458 

    present in Gene: COL5A1;LOC101448202
    present in Chromosome: 9
    Position on Chromosome: 134820143
    Alleles of this Variant: G/A

rs863223458 in COL5A1;LOC101448202 gene and EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 PMID 7695699 1994 Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.

PMID 19344236 2009 Collagen structure and stability.

PMID 8218237 1993 Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.

PMID 23587214 2013 Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.

PMID 22696272 2012 Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.