COL7A1, collagen type VII alpha 1 chain, 1294

N. diseases: 160; N. variants: 87
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs762162799
rs762162799
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.810 GeneticVariation UNIPROT Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations. 20598510 2010
dbSNP: rs762162799
rs762162799
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.810 GeneticVariation BEFREE Surprisingly, mutation database revealed that this G2028R mutation had been previously identified in two distinct Asian families with DDEB showing apparent skin fragility and blister formation. 15113589 2004
dbSNP: rs762162799
rs762162799
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.810 GeneticVariation UNIPROT Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa. 11142768 2000
dbSNP: rs762162799
rs762162799
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.810 GeneticVariation UNIPROT A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa. 10836608 2000
dbSNP: rs762162799
rs762162799
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.810 GeneticVariation UNIPROT Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa. 10084325 1999
dbSNP: rs762162799
rs762162799
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.810 GeneticVariation UNIPROT "Diagnostic dilemma of ""sporadic"" cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?" 10232406 1999
dbSNP: rs762162799
rs762162799
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.810 GeneticVariation UNIPROT Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1). 10233777 1999
dbSNP: rs762162799
rs762162799
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.810 GeneticVariation UNIPROT Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study. 10232408 1999
dbSNP: rs762162799
rs762162799
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.810 GeneticVariation UNIPROT Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa. 10232407 1999
dbSNP: rs762162799
rs762162799
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.810 GeneticVariation UNIPROT Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa. 9740253 1998
dbSNP: rs762162799
rs762162799
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.810 GeneticVariation UNIPROT Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering. 9668111 1998
dbSNP: rs762162799
rs762162799
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.810 GeneticVariation UNIPROT Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling. 9856843 1998
dbSNP: rs762162799
rs762162799
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.810 GeneticVariation UNIPROT Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene. 9215684 1997
dbSNP: rs762162799
rs762162799
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.810 GeneticVariation UNIPROT A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa. 7861014 1995
dbSNP: rs762162799
rs762162799
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.810 GeneticVariation UNIPROT Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen. 8170945 1994
dbSNP: rs762162799
rs762162799
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		T 0.810 CausalMutation CLINVAR
dbSNP: rs121912829
rs121912829
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.800 GeneticVariation UNIPROT Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations. 20598510 2010
dbSNP: rs121912836
rs121912836
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.800 GeneticVariation UNIPROT Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations. 20598510 2010
dbSNP: rs121912842
rs121912842
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.800 GeneticVariation UNIPROT Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations. 20598510 2010
dbSNP: rs121912843
rs121912843
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.800 GeneticVariation UNIPROT Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations. 20598510 2010
dbSNP: rs121912844
rs121912844
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.800 GeneticVariation UNIPROT Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations. 20598510 2010
dbSNP: rs121912846
rs121912846
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.800 GeneticVariation UNIPROT Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations. 20598510 2010
dbSNP: rs121912850
rs121912850
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.800 GeneticVariation UNIPROT Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations. 20598510 2010
dbSNP: rs121912844
rs121912844
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.800 GeneticVariation UNIPROT EB simplex superficialis resulting from a mutation in the type VII collagen gene. 11874498 2002
dbSNP: rs121912829
rs121912829
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.800 GeneticVariation UNIPROT A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa. 10836608 2000