BEST1, bestrophin 1, 7439

N. diseases: 292; N. variants: 152
Disease: Vitelliform Macular Dystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs762398929
rs762398929
Entrez Id: 2495;7439
Gene Symbol: FTH1;BEST1
FTH1;BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.010 GeneticVariation BEFREE Sanger sequencing of all exons of the BEST1 gene in both families identified two new mutations: a missense mutation c.C91A [p.L31 M] at the N-terminal transmembrane domain within the ARB family and a nonsense mutation C1550G (p.S517X) in the C-terminal domain segregating in the BVMD family. 31254423 2019