Variant: rs121912856 

    present in Gene: COL7A1
    present in Chromosome: 3
    Position on Chromosome: 48593538
    Alleles of this Variant: T/C

rs121912856 in COL7A1 gene and Epidermolysis Bullosa Dystrophica PMID 20598510 2010 Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations.

PMID 8755915 1996 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.

PMID 15888141 2005 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.

PMID 22266148 2012 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.

rs121912856 in COL7A1 gene and Hallopeau-Siemens Disease PMID 8757758 1996 Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa.

PMID 8592061 1996 Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity.

PMID 8513326 1993 A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa.

PMID 8618018 1996 Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa.

PMID 9444387 1997 Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa.

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

PMID 15888141 2005 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.

PMID 22266148 2012 Novel and recurrent COL7A1 mutation in a Polish population.

PMID 12787275 2003 Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein.

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 10620140 2000 Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa.

PMID 11167698 2001 Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets.

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

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

PMID 12485454 2002 In RDEB patients, six recurrent mutations were identified: 7344G-->A, 425A-->G, 8441-14del21, 4783-1G-->A, 497insA, and G1664A, the last three being found only in Italian patients.

PMID 9326325 1997 Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.

PMID 9804332 1998 Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.