rs144023803
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.
|
24947307 |
2015 |
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 |
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 |
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 |
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 |
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 |
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 |
rs1032335328
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.
|
29130490 |
2017 |
rs144023803
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Revertant mosaicism in recessive dystrophic epidermolysis bullosa.
|
20357813 |
2010 |
rs886058642
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.
|
12813757 |
2003 |
rs1057517723
|
|
TG |
0.700 |
CausalMutation |
CLINVAR |
Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.
|
16439963 |
2006 |
rs144023803
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB.
|
26763448 |
2016 |
rs757415879
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases.
|
27544590 |
2016 |
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 |
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 |
Impact of next generation sequencing on diagnostics in a genetic skin disease clinic.
|
24279917 |
2013 |
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 |
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 |
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 |
rs757415879
|
|
A |
0.700 |
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 |
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 |
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 |
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 |
rs757415879
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense.
|
15816848 |
2005 |