Variant: rs121912832 

    present in Gene: COL7A1
    present in Chromosome: 3
    Position on Chromosome: 48575512
    Alleles of this Variant: C/T

rs121912832 in COL7A1 gene and Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 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.

PMID 7861014 1995 A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa.

PMID 10232408 1999 Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study.

PMID 10084325 1999 Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa.

PMID 10232407 1999 Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa.

PMID 10233777 1999 Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1).

PMID 10232406 1999 "Diagnostic dilemma of ""sporadic"" cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?"

PMID 9856843 1998 Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.

PMID 9668111 1998 Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.

PMID 9740253 1998 Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.

PMID 8170945 1994 Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen.

PMID 10836608 2000 A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa.

PMID 9215684 1997 Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.

PMID 20598510 2010 Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations.

rs121912832 in COL7A1 gene and Dysmorphic features PMID 26064063 2015 Dystrophic epidermolysis bullosa: a review.

PMID 3771648 1986 Type VII collagen is a major structural component of anchoring fibrils.

PMID 20507384 2010 Overview of epidermolysis bullosa.

PMID 19026465 2009 Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006.