COL7A1, collagen type VII alpha 1 chain, 1294

N. diseases: 38; N. variants: 68
Source: CLINVAR ×
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) 		T 0.810 CausalMutation CLINVAR
dbSNP: rs121912856
rs121912856
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease:
Hallopeau-Siemens Disease 		C 0.800 CausalMutation CLINVAR Novel and recurrent COL7A1 mutation in a Polish population. 22266148 2012
dbSNP: rs121912856
rs121912856
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease:
Hallopeau-Siemens Disease 		C 0.800 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
dbSNP: rs121912856
rs121912856
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease:
Hallopeau-Siemens Disease 		C 0.800 CausalMutation CLINVAR In RDEB patients, six recurrent mutations were identified: 7344G-->A, 425A-->G, 8441-14del21, 4783-1G-->A, 497insA, and G1664A, the last three being found only in Italian patients. 12485454 2002
dbSNP: rs121912828
rs121912828
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease:
Hallopeau-Siemens Disease 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121912829
rs121912829
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121912831
rs121912831
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432321
Disease:
Epidermolysis bullosa, pretibial 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121912834
rs121912834
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C1851573
Disease:
Transient bullous dermolysis of the newborn 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121912835
rs121912835
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C1851573
Disease:
Transient bullous dermolysis of the newborn 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121912836
rs121912836
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121912838
rs121912838
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease:
Hallopeau-Siemens Disease 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121912839
rs121912839
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease:
Hallopeau-Siemens Disease 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121912840
rs121912840
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C1843761
Disease:
TOENAIL DYSTROPHY, ISOLATED 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121912841
rs121912841
Entrez Id: 1294;100313843
Gene Symbol: COL7A1;MIR711
COL7A1;MIR711
CUI: C1843761
Disease:
TOENAIL DYSTROPHY, ISOLATED 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121912842
rs121912842
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121912843
rs121912843
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121912844
rs121912844
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121912846
rs121912846
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121912849
rs121912849
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease:
Hallopeau-Siemens Disease 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121912850
rs121912850
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease:
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121912851
rs121912851
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease:
Hallopeau-Siemens Disease 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121912853
rs121912853
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease:
Hallopeau-Siemens Disease 		T 0.800 CausalMutation CLINVAR
dbSNP: rs762162799
rs762162799
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C1275114
Disease:
Epidermolysis Bullosa Pruriginosa 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121912856
rs121912856
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079294
Disease:
Epidermolysis Bullosa Dystrophica 		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
dbSNP: rs121912856
rs121912856
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079294
Disease:
Epidermolysis Bullosa Dystrophica 		C 0.720 CausalMutation CLINVAR Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations. 20598510 2010