|
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 |
|
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 |
|
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 |
|
rs757415879
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Dystrophic epidermolysis bullosa complicated by cutaneous squamous cell carcinoma and pulmonary and renal amyloidosis.
|
12653705 |
2003 |
|
rs757415879
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases.
|
27544590 |
2016 |
|
rs757415879
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Aminoglycosides restore full-length type VII collagen by overcoming premature termination codons: therapeutic implications for dystrophic epidermolysis bullosa.
|
25155989 |
2014 |
|
rs757415879
|
|
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 |
|
rs757415879
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Cetuximab therapy of metastasizing cutaneous squamous cell carcinoma in a patient with severe recessive dystrophic epidermolysis bullosa.
|
19439919 |
2009 |
|
rs757415879
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense.
|
15816848 |
2005 |
|
rs747912732
|
|
TC |
0.700 |
GeneticVariation |
CLINVAR |
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
|
16971478 |
2007 |
|
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 |
|
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 |
|
rs1560241522
|
|
C |
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 |