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: rs121912773
rs121912773
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		0.800 GeneticVariation UNIPROT A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa. 11912005 2002
dbSNP: rs121912773
rs121912773
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		0.800 GeneticVariation UNIPROT Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain. 10951237 2000
dbSNP: rs121912773
rs121912773
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		0.800 GeneticVariation UNIPROT Collagen XVII is destabilized by a glycine substitution mutation in the cell adhesion domain Col15. 10652291 2000
dbSNP: rs121912773
rs121912773
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		0.800 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: rs121912773
rs121912773
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		0.800 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
dbSNP: rs121912773
rs121912773
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs752317971
rs752317971
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		A 0.700 CausalMutation CLINVAR Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa. 21357940 2011
dbSNP: rs1478395810
rs1478395810
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		C 0.700 GeneticVariation CLINVAR Glycine substitution mutations cause intracellular accumulation of collagen XVII and affect its post-translational modifications. 19340010 2009
dbSNP: rs1478395810
rs1478395810
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		C 0.700 GeneticVariation CLINVAR Molecular mechanisms of junctional epidermolysis bullosa: Col 15 domain mutations decrease the thermal stability of collagen XVII. 16354180 2005
dbSNP: rs775244527
rs775244527
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		T 0.700 GeneticVariation CLINVAR A founder COL17A1 splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel. 14614394 2004
dbSNP: rs775196743
rs775196743
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		A 0.700 CausalMutation CLINVAR Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. 12813757 2003
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: rs775244527
rs775244527
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		T 0.700 GeneticVariation CLINVAR Truncated typeXVII collagen expression in a patient with non-herlitz junctional epidermolysis bullosa caused by a homozygous splice-site mutation. 11406649 2001
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: rs775244527
rs775244527
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		T 0.700 GeneticVariation CLINVAR Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa. 10636730 1999
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: rs1478395810
rs1478395810
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		C 0.700 GeneticVariation CLINVAR A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa. 9204958 1997
dbSNP: rs752317971
rs752317971
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		A 0.700 CausalMutation CLINVAR Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa. 9077475 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
dbSNP: rs1064793760
rs1064793760
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		C 0.700 CausalMutation CLINVAR
dbSNP: rs121912769
rs121912769
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121912770
rs121912770
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121912772
rs121912772
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		C 0.700 CausalMutation CLINVAR
dbSNP: rs121912774
rs121912774
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		A 0.700 CausalMutation CLINVAR