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 |
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 |
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 |
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
|
|
|
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 |
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 |
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 |
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 |
rs144023803
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Revertant mosaicism in recessive dystrophic epidermolysis bullosa.
|
20357813 |
2010 |
rs144023803
|
|
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
|
|
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
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.
|
24947307 |
2015 |
rs144023803
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB.
|
26763448 |
2016 |
rs144023803
|
|
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 |