Variant: rs121912837 

    present in Gene: COL7A1
    present in Chromosome: 3
    Position on Chromosome: 48573047
    Alleles of this Variant: C/G;T

rs121912837 in COL7A1 gene and Epidermolysis Bullosa Pruriginosa PMID 10383749 1999 Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.

PMID 11142768 2000 Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa.