FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Arachnodactyly ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854475
rs137854475
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0003706
Disease:
Arachnodactyly 		0.010 GeneticVariation BEFREE We have identified a novel missense mutation in exon 28 of the FBN1 gene (R1170H) which is responsible for an atypical marfanoid phenotype characterised by dolichostenomelia and arachnodactyly. 7870075 1994