FLNC Chromosome 7
Filamin C
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What This Gene Does
This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain. Mutations in this gene are a cause of cardiopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2022]
Gene Info
Gene Group
Filamin family
Locus Type
gene with protein product
Location
7q32.1
Ensembl
ENSG00000128591
Associated Conditions (39)
Cardiovascular phenotype
Hypertrophic cardiomyopathy 26
Myofibrillar myopathy 5
Distal myopathy with posterior leg and anterior hand involvement
Cardiomyopathy
FLNC-related disorder
Primary familial hypertrophic cardiomyopathy
Restrictive cardiomyopathy
Dilated Cardiomyopathy
Dominant
Sarcoma
Cervical cancer
Lung cancer
Clear cell carcinoma of kidney
Arrhythmogenic right ventricular dysplasia
familial
15
Primary familial dilated cardiomyopathy
Primary dilated cardiomyopathy
Malignant tumor of esophagus
+19 more conditions
Key Variants
RS1019973830
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
Health Risk
RS1022106059
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
Health Risk
RS10268251
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiomyopathy, FLNC-related disorder
Health Risk
RS1031265089
Conflicting classifications of pathogenicity
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
Health Risk
RS1032003580
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
Health Risk
RS1034483511
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
Health Risk
RS1041643602
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
Health Risk
RS1046022647
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
Health Risk
RS1046320257
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
Health Risk
RS1052000080
Conflicting classifications of pathogenicity
Cardiomyopathy, FLNC-related disorder, Distal myopathy with posterior leg and anterior hand involvement
Health Risk
RS1057523921
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
Health Risk
RS1063262
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
Health Risk
All Variants (902)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2536649820 | Health Risk | Likely pathogenic | Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2536654502 | Health Risk | Likely pathogenic | Primary familial dilated cardiomyopathy, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26 |
| RS2536656290 | Health Risk | Likely pathogenic | Cardiomyopathy, Cardiomyopathy |
| RS2536659978 | Health Risk | Likely pathogenic | Cardiomyopathy, Cardiomyopathy |
| RS2536660619 | Health Risk | Likely pathogenic | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5 |
| RS2536661967 | Health Risk | Likely pathogenic | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5 |
| RS2536664709 | Health Risk | Likely pathogenic | Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy |
| RS2536670455 | Health Risk | Likely pathogenic | Cardiomyopathy, Cardiomyopathy |
| RS2536671430 | Health Risk | Likely pathogenic | — |
| RS2536673906 | Health Risk | Likely pathogenic | Myofibrillar myopathy 5, Myofibrillar myopathy 5 |
| RS755832014 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5 |
| RS762493013 | Health Risk | Likely pathogenic | Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy |
| RS774945928 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5 |
| RS866887062 | Health Risk | Likely pathogenic | Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS867808948 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement |
| RS1064795229 | Health Risk | Pathogenic | Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26 |
| RS112903432 | Health Risk | Pathogenic | Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26 |
| RS1156444972 | Health Risk | Pathogenic | Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement |
| RS1169967969 | Health Risk | Pathogenic | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5 |
| RS1204536261 | Health Risk | Pathogenic | Primary dilated cardiomyopathy, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26 |
| RS121909518 | Health Risk | Pathogenic | Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement |
| RS1282619643 | Health Risk | Pathogenic | Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5 |
| RS1282812003 | Health Risk | Pathogenic | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5 |
| RS1283989527 | Health Risk | Pathogenic | Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5 |
| RS1329973329 | Health Risk | Pathogenic | Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5 |
| RS1342121466 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 26, Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement |
| RS1360167769 | Health Risk | Pathogenic | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5 |
| RS1367760687 | Health Risk | Pathogenic | Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement |
| RS1374893890 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5 |
| RS1389742580 | Health Risk | Pathogenic | Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS1401551498 | Health Risk | Pathogenic | Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS1417082178 | Health Risk | Pathogenic | Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement |
| RS1420159591 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 26, Cardiomyopathy, Cardiovascular phenotype |
| RS1446694237 | Health Risk | Pathogenic | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5 |
| RS1455396332 | Health Risk | Pathogenic | Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement |
| RS1554397197 | Health Risk | Pathogenic | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5 |
| RS1554397464 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5 |
| RS1554397506 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5 |
| RS1554398092 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5 |
| RS1554398674 | Health Risk | Pathogenic | Cardiovascular phenotype, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement |
| RS1554399014 | Health Risk | Pathogenic | Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26 |
| RS1554400700 | Health Risk | Pathogenic | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5 |
| RS1554400703 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement |
| RS1554401581 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5 |
| RS1554401756 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5 |
| RS1554401780 | Health Risk | Pathogenic | Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement |
| RS1554401830 | Health Risk | Pathogenic | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5 |
| RS1562988883 | Health Risk | Pathogenic | Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26 |
| RS1562991002 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 26, Hypertrophic cardiomyopathy 26 |
| RS1562996441 | Health Risk | Pathogenic | Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5 |