FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Marfan Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854457
rs137854457
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.800 GeneticVariation UNIPROT A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly. 7870075 1994
dbSNP: rs137854457
rs137854457
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.800 GeneticVariation UNIPROT A new missense mutation of fibrillin in a patient with Marfan syndrome. 8071963 1994
dbSNP: rs137854457
rs137854457
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.800 GeneticVariation UNIPROT Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred. 7951214 1994
dbSNP: rs137854457
rs137854457
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.800 GeneticVariation UNIPROT Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. 8406497 1993
dbSNP: rs137854457
rs137854457
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.800 GeneticVariation UNIPROT Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains. 8281141 1993
dbSNP: rs137854457
rs137854457
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs137854457
rs137854457
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		G 0.800 CausalMutation CLINVAR