COL17A1, collagen type XVII alpha 1 chain, 1308

N. diseases: 138; N. variants: 28
Disease: Junctional Epidermolysis Bullosa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1210666598
rs1210666598
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0079301
Disease:
Junctional Epidermolysis Bullosa 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs121912773
rs121912773
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0079301
Disease:
Junctional Epidermolysis Bullosa 		0.010 GeneticVariation BEFREE The mutation occurred in a junctional epidermolysis bullosa patient who was compound heterozygous for the novel glycine substitution mutation G633D and the novel nonsense mutation R145X. 10951237 2000
dbSNP: rs121912774
rs121912774
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0079301
Disease:
Junctional Epidermolysis Bullosa 		0.010 GeneticVariation BEFREE The mutation occurred in a junctional epidermolysis bullosa patient who was compound heterozygous for the novel glycine substitution mutation G633D and the novel nonsense mutation R145X. 10951237 2000
dbSNP: rs121912771
rs121912771
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0079301
Disease:
Junctional Epidermolysis Bullosa 		0.010 GeneticVariation BEFREE All patients carried novel homozygous point mutations (Q1016X, R1226X, and R1303Q) in the COL17A1 gene encoding collagen XVII, a hemidesmosomal transmembrane component; and, therefore, not only GABEB but also the localisata JEB can be a collagen XVII disorder. 9199555 1997