Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs144023803
rs144023803
A 0.700 CausalMutation CLINVAR Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB. 26763448

2016

dbSNP: rs144023803
rs144023803
A 0.700 CausalMutation CLINVAR Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory. 24947307

2015

dbSNP: rs144023803
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

dbSNP: rs144023803
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

dbSNP: rs144023803
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

dbSNP: rs144023803
rs144023803
A 0.700 CausalMutation CLINVAR Revertant mosaicism in recessive dystrophic epidermolysis bullosa. 20357813

2010

dbSNP: rs144023803
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

dbSNP: rs144023803
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

dbSNP: rs144023803
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

dbSNP: rs144023803
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