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: rs1114167361
rs1114167361
Entrez Id: 2318
Gene Symbol: FLNC
FLNC
CUI: C1836050
Disease:
Filaminopathy, autosomal dominant 		T 0.700 CausalMutation CLINVAR Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. 26436962 2015
dbSNP: rs1114167361
rs1114167361
Entrez Id: 2318
Gene Symbol: FLNC
FLNC
CUI: C1836050
Disease:
Filaminopathy, autosomal dominant 		T 0.700 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011