COL17A1, collagen type XVII alpha 1 chain, 1308

N. diseases: 138; N. variants: 28
Disease: Adult junctional epidermolysis bullosa (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912771
rs121912771
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		0.700 GeneticVariation UNIPROT A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa. 11912005 2002
dbSNP: rs121912771
rs121912771
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		0.700 GeneticVariation UNIPROT Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain. 10951237 2000
dbSNP: rs121912771
rs121912771
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		0.700 GeneticVariation UNIPROT Collagen XVII is destabilized by a glycine substitution mutation in the cell adhesion domain Col15. 10652291 2000
dbSNP: rs121912771
rs121912771
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		0.700 GeneticVariation UNIPROT Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa. 9199555 1997
dbSNP: rs121912771
rs121912771
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		0.700 GeneticVariation UNIPROT Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition. 8669466 1996