Variant: rs121912771 

    present in Gene: COL17A1
    present in Chromosome: 10
    Position on Chromosome: 104034193
    Alleles of this Variant: C/T

rs121912771 in COL17A1 gene and Adult junctional epidermolysis bullosa (disorder) PMID 11912005 2002 A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa.

PMID 9199555 1997 Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa.

PMID 10652291 2000 Collagen XVII is destabilized by a glycine substitution mutation in the cell adhesion domain Col15.

PMID 10951237 2000 Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain.

PMID 8669466 1996 Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition.