FLNA, filamin A, 2316

N. diseases: 571; N. variants: 85
Disease: Fibromuscular Dysplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853312
rs137853312
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0016052
Disease:
Fibromuscular Dysplasia 		0.010 GeneticVariation BEFREE In a second family with FMD, we identified a known mutation (S1186L) in a mother and her son. 16596676 2006
dbSNP: rs137853316
rs137853316
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0016052
Disease:
Fibromuscular Dysplasia 		0.010 GeneticVariation BEFREE We report on a novel de novo mutation 5182G --> T in exon 31 of the FLNA gene in a girl with manifestations of FMD and OPD1. 16596676 2006