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FLNC - filamin C
- Synonym(s) : ABP-280, ABPL, actin binding protein 280, gamma filamin
- Previous symbols and names : 'filamin C, gamma (actin binding protein 280)', FLN2, Filamin C, gamma (actin binding protein 280), filamin C, gamma
- Type : gene with protein product
- Chromosomal location : 7q32.1
- OMIM: 102565
- HGNC: 3756
- UniProtKB: Q14315
- Genatlas: FLNC
- GenCC: FLNC
- Ensembl: ENSG00000128591
- IUPHAR-DB: -
- Reactome: Q14315
- LOVD: FLNC
Diseases list
- Disease-causing germline mutation(s) in Distal myopathy with posterior leg and anterior hand involvement
ORPHA:63273 
- Disease-causing germline mutation(s) in Familial isolated restrictive cardiomyopathy
ORPHA:75249 - Disease-causing germline mutation(s) in Muscle filaminopathy
ORPHA:171445 - Disease-causing germline mutation(s) in NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
ORPHA:155
: AssessedAdditional information
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