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 |
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 |
rs1032335328
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.
|
29130490 |
2017 |
rs1032335328
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.
|
10504458 |
1999 |
rs1032335328
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Impact of next generation sequencing on diagnostics in a genetic skin disease clinic.
|
24279917 |
2013 |
rs747912732
|
|
TC |
0.700 |
GeneticVariation |
CLINVAR |
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
|
16971478 |
2007 |
rs886058642
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.
|
10504458 |
1999 |
rs886058642
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.
|
12813757 |
2003 |
rs886058642
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
|
16971478 |
2007 |
rs121912836
|
|
|
0.020 |
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 |
rs121912836
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Given the widespread geographical distribution of this mutation and the demonstration of its occurrence as a de novo event, G2043R therefore represents the first example of a mutational hotspot in dominant DEB.
|
9892921 |
1998 |
rs1228667876
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In parallel, sequencing of epidermolysis bullosa (EB) genes identified compound heterozygous COL7A1 missense c.410G>A (p.Arg137Gln) and splicing c.3674C>T (p.Ala1225_Gln1241del) mutations, previously unrecognized in dystrophic epidermolysis bullosa (DEB).
|
29182795 |
2018 |
rs1368134215
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report two novel mutations found in a patient affected by the most severe form of DEB, the recessive Hallopeau-Siemens variant (HS-RDEB): the R1978X nonsense mutation, in exon 72, and the -96C-->T transition, in the promoter region.
|
10980546 |
2000 |
rs143457874
|
|
|
0.010 |
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 |
rs372166543
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The mutations 5818delC, 6573+1G-->C, and E2857X were detected in 11 Japanese patients (13 alleles) with DEB.
|
14727126 |
2004 |
rs372918810
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In parallel, sequencing of epidermolysis bullosa (EB) genes identified compound heterozygous COL7A1 missense c.410G>A (p.Arg137Gln) and splicing c.3674C>T (p.Ala1225_Gln1241del) mutations, previously unrecognized in dystrophic epidermolysis bullosa (DEB).
|
29182795 |
2018 |
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 |
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 |
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 |
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 |
rs1055680335
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057517723
|
|
TG |
0.700 |
CausalMutation |
CLINVAR |
Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort.
|
19681861 |
2009 |
rs1057517723
|
|
TG |
0.700 |
CausalMutation |
CLINVAR |
Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.
|
16439963 |
2006 |
rs1057517723
|
|
TG |
0.700 |
CausalMutation |
CLINVAR |
Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.
|
27899325 |
2017 |
rs144023803
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
HB-EGF induces COL7A1 expression in keratinocytes and fibroblasts: possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis Bullosa.
|
21471992 |
2011 |