|
rs121912856
|
|
Epidermolysis Bullosa Dystrophica
|
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
|
|
Epidermolysis Bullosa Dystrophica
|
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
|
|
Epidermolysis Bullosa Dystrophica
|
|
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 |
|
rs121912856
|
|
Epidermolysis Bullosa Dystrophica
|
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 |
|
rs121912856
|
|
Epidermolysis Bullosa Dystrophica
|
|
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
|
|
Epidermolysis Bullosa Dystrophica
|
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 |
|
rs1032335328
|
|
Epidermolysis Bullosa Dystrophica
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.
|
29130490 |
2017 |
|
rs1032335328
|
|
Epidermolysis Bullosa Dystrophica
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Impact of next generation sequencing on diagnostics in a genetic skin disease clinic.
|
24279917 |
2013 |
|
rs1032335328
|
|
Epidermolysis Bullosa Dystrophica
|
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 |
|
rs1055680335
|
|
Epidermolysis Bullosa Dystrophica
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1057517723
|
|
Epidermolysis Bullosa Dystrophica
|
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 |
|
rs1057517723
|
|
Epidermolysis Bullosa Dystrophica
|
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
|
|
Epidermolysis Bullosa Dystrophica
|
TG |
0.700 |
CausalMutation
|
CLINVAR |
Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.
|
16439963 |
2006 |
|
rs144023803
|
|
Epidermolysis Bullosa Dystrophica
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB.
|
26763448 |
2016 |
|
rs144023803
|
|
Epidermolysis Bullosa Dystrophica
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.
|
24947307 |
2015 |
|
rs144023803
|
|
Epidermolysis Bullosa Dystrophica
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family.
|
26102279 |
2015 |
|
rs144023803
|
|
Epidermolysis Bullosa Dystrophica
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial.
|
24032424 |
2013 |
|
rs144023803
|
|
Epidermolysis Bullosa Dystrophica
|
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 |
|
rs144023803
|
|
Epidermolysis Bullosa Dystrophica
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Revertant mosaicism in recessive dystrophic epidermolysis bullosa.
|
20357813 |
2010 |
|
rs144023803
|
|
Epidermolysis Bullosa Dystrophica
|
A |
0.700 |
CausalMutation
|
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 |
|
rs144023803
|
|
Epidermolysis Bullosa Dystrophica
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Haplotype analysis revealed that the mutations existed on similar allelic backgrounds in different patients, consistent with propagation of common British ancestral haplotypes, although R578X and 7786delG also have been described in DEB patients from other ethnic backgrounds.
|
9242516 |
1997 |
|
rs144023803
|
|
Epidermolysis Bullosa Dystrophica
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.
|
9326325 |
1997 |
|
rs144023803
|
|
Epidermolysis Bullosa Dystrophica
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa.
|
7833933 |
1994 |
|
rs1560241522
|
|
Epidermolysis Bullosa Dystrophica
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs747912732
|
|
Epidermolysis Bullosa Dystrophica
|
TC |
0.700 |
GeneticVariation
|
CLINVAR |
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
|
16971478 |
2007 |