FMN1 Chromosome 15
Formin 1
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What This Gene Does
This gene belongs to the formin homology family and encodes a protein that has a role in the formation of adherens junction and the polymerization of linear actin cables. The homologous gene in mouse is associated with limb deformity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]
Gene Info
Gene Group
Formins
Locus Type
gene with protein product
Location
15q13.3
Ensembl
ENSG00000248905
Associated Conditions (1)
FMN1-related disorder
Key Variants
RS139446870
Conflicting classifications of pathogenicity
Health Risk
RS144234543
Conflicting classifications of pathogenicity
FMN1-related disorder, FMN1-related disorder
Health Risk
RS147769257
Conflicting classifications of pathogenicity
Health Risk
RS1595576646
Conflicting classifications of pathogenicity
FMN1-related disorder, FMN1-related disorder
Health Risk
RS200018358
Conflicting classifications of pathogenicity
Health Risk
RS200129808
Conflicting classifications of pathogenicity
Health Risk
RS201555719
Conflicting classifications of pathogenicity
Health Risk
RS202063843
Conflicting classifications of pathogenicity
Health Risk
RS76835557
Conflicting classifications of pathogenicity
FMN1-related disorder, FMN1-related disorder
Health Risk
RS772201593
Conflicting classifications of pathogenicity
Health Risk
RS926605064
Conflicting classifications of pathogenicity
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139446870 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144234543 | Health Risk | Conflicting classifications of pathogenicity | FMN1-related disorder, FMN1-related disorder |
| RS147769257 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1595576646 | Health Risk | Conflicting classifications of pathogenicity | FMN1-related disorder, FMN1-related disorder |
| RS200018358 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200129808 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201555719 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202063843 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS76835557 | Health Risk | Conflicting classifications of pathogenicity | FMN1-related disorder, FMN1-related disorder |
| RS772201593 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS926605064 | Health Risk | Conflicting classifications of pathogenicity | — |