|
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 |
|
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 |
|
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 |
|
|
|
|
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 |
|
rs144023803
|
|
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 |
|
rs144023803
|
|
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
|
|
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 |
|
rs757415879
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.
|
16484981 |
2006 |
|
rs757415879
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosa.
|
17916216 |
2007 |