CFL2 Chromosome 14
Cofilin 2
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What This Gene Does
This gene encodes an intracellular protein that is involved in the regulation of actin-filament dynamics. This protein is a major component of intranuclear and cytoplasmic actin rods. It can bind G- and F-actin in a 1:1 ratio of cofilin to actin, and it reversibly controls actin polymerization and depolymerization in a pH-dependent manner. Mutations in this gene cause nemaline myopathy type 7, a form of congenital myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
Gene Info
Gene Group
Cofilin family
Locus Type
gene with protein product
Location
14q13.1
Ensembl
ENSG00000165410
Associated Conditions (3)
Nemaline myopathy 7
Centronuclear myopathy
CFL2-related disorder
Key Variants
RS149700171
Conflicting classifications of pathogenicity
Nemaline myopathy 7, Nemaline myopathy 7
Health Risk
RS150492527
Conflicting classifications of pathogenicity
Nemaline myopathy 7, Nemaline myopathy 7
Health Risk
RS1885381246
Conflicting classifications of pathogenicity
Nemaline myopathy 7, Centronuclear myopathy, Nemaline myopathy 7
Health Risk
RS1555333797
Likely pathogenic
Health Risk
RS1594784544
Pathogenic
Nemaline myopathy 7, Nemaline myopathy 7
Health Risk
RS1885387438
Pathogenic
Nemaline myopathy 7, CFL2-related disorder, Nemaline myopathy 7
Health Risk
RS2502579467
Pathogenic
Nemaline myopathy 7, Nemaline myopathy 7
Health Risk
RS533833167
Pathogenic
Nemaline myopathy 7, Nemaline myopathy 7, Nemaline myopathy 7
Health Risk
RS80358250
Pathogenic
Nemaline myopathy 7, Nemaline myopathy 7
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149700171 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 7, Nemaline myopathy 7 |
| RS150492527 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 7, Nemaline myopathy 7 |
| RS1885381246 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 7, Centronuclear myopathy, Nemaline myopathy 7 |
| RS1555333797 | Health Risk | Likely pathogenic | — |
| RS1594784544 | Health Risk | Pathogenic | Nemaline myopathy 7, Nemaline myopathy 7 |
| RS1885387438 | Health Risk | Pathogenic | Nemaline myopathy 7, CFL2-related disorder, Nemaline myopathy 7 |
| RS2502579467 | Health Risk | Pathogenic | Nemaline myopathy 7, Nemaline myopathy 7 |
| RS533833167 | Health Risk | Pathogenic | Nemaline myopathy 7, Nemaline myopathy 7, Nemaline myopathy 7 |
| RS80358250 | Health Risk | Pathogenic | Nemaline myopathy 7, Nemaline myopathy 7 |