Variant: rs80338764 

    present in Gene: LOC101448202;COL5A1
    present in Chromosome: 9
    Position on Chromosome: 134824817
    Alleles of this Variant: G/C

rs80338764 in LOC101448202;COL5A1 gene and EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 PMID 18972565 2009 COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome.

PMID 15580559 2005 The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.

PMID 10602121 2000 Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?

PMID 11992482 2002 Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.

PMID 9042913 1997 Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.