FLNC, filamin C, 2318

N. diseases: 132; N. variants: 56
Disease: Filaminopathy, autosomal dominant ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1446694237
rs1446694237
Entrez Id: 2318
Gene Symbol: FLNC
FLNC
CUI: C1836050
Disease:
Filaminopathy, autosomal dominant 		T 0.700 CausalMutation CLINVAR Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. 27908349 2016