present in Gene: COL7A1
present in Chromosome: 3
Position on Chromosome: 48568098
Alleles of this Variant: C/A
rs121912831 in
COL7A1 gene and
Epidermolysis bullosa, pretibial
PMID 8541842 1995 Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.