Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912856
rs121912856
C 0.720 CausalMutation CLINVAR The panel of recessively inherited DEB causing recurrent mutations comprise of five variants: c.425A>G, c.682+1G>A, p.R2069C, p.W796X and, unreported before, c.7154delC, which accounts for about 59% of all mutated alleles in this group. 22266148

2012

dbSNP: rs121912856
rs121912856
C 0.720 CausalMutation CLINVAR Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations. 20598510

2010

dbSNP: rs121912856
rs121912856
0.720 GeneticVariation BEFREE High recurrence of the splice-site mutation 425A-->G in central European patients with DEB should be taken into account when designing COL7A1 mutation detection strategies. 15888141

2005

dbSNP: rs121912856
rs121912856
C 0.720 CausalMutation CLINVAR High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa. 15888141

2005

dbSNP: rs121912856
rs121912856
0.720 GeneticVariation BEFREE We demonstrated the absence of the recurrent mutations R578X, 7786delG, and R2814X in 42 non-British patients with DEB and detected the mutations 425A-->G in a French patient and G2043R in Japanese and Chinese patients with DEB. 14727126

2004

dbSNP: rs121912856
rs121912856
C 0.720 CausalMutation CLINVAR Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa. 8755915

1996