FGF14 Chromosome 13
Fibroblast growth factor 14
Upload your DNA to see your personal genotypes for variants in FGF14.
What This Gene Does
The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. A mutation in this gene is associated with autosomal dominant cerebral ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Fibroblast growth factor family"
Locus Type
gene with protein product
Location
13q33.1
Ensembl
ENSG00000102466
Associated Conditions (7)
Inborn genetic diseases
Spinocerebellar ataxia type 27
FGF14-related disorder
Spinocerebellar ataxia 27A
Cerebellar ataxia
Spinocerebellar ataxia 27B
late-onset
Key Variants
RS1555301901
Conflicting classifications of pathogenicity
Health Risk
RS374010824
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS557390242
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 27, Spinocerebellar ataxia type 27
Health Risk
RS1566823361
Likely pathogenic
Health Risk
RS2501856727
Likely pathogenic
Spinocerebellar ataxia type 27, FGF14-related disorder, Spinocerebellar ataxia type 27
Health Risk
RS2501931899
Likely pathogenic
Spinocerebellar ataxia 27A, Spinocerebellar ataxia 27A
Health Risk
RS104894393
Pathogenic
Spinocerebellar ataxia 27A, Spinocerebellar ataxia 27A
Health Risk
RS1555370787
Pathogenic
Spinocerebellar ataxia type 27, Spinocerebellar ataxia 27A, Spinocerebellar ataxia type 27
Health Risk
RS2047659273
Pathogenic
Cerebellar ataxia, Spinocerebellar ataxia 27B, late-onset
Health Risk
RS2501858298
Pathogenic
Health Risk
RS2501931660
Pathogenic
Spinocerebellar ataxia 27A, Spinocerebellar ataxia 27A
Health Risk
RS2548901390
Pathogenic
Spinocerebellar ataxia 27A, Spinocerebellar ataxia 27A
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555301901 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374010824 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS557390242 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 27, Spinocerebellar ataxia type 27 |
| RS1566823361 | Health Risk | Likely pathogenic | — |
| RS2501856727 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 27, FGF14-related disorder, Spinocerebellar ataxia type 27 |
| RS2501931899 | Health Risk | Likely pathogenic | Spinocerebellar ataxia 27A, Spinocerebellar ataxia 27A |
| RS104894393 | Health Risk | Pathogenic | Spinocerebellar ataxia 27A, Spinocerebellar ataxia 27A |
| RS1555370787 | Health Risk | Pathogenic | Spinocerebellar ataxia type 27, Spinocerebellar ataxia 27A, Spinocerebellar ataxia type 27 |
| RS2047659273 | Health Risk | Pathogenic | Cerebellar ataxia, Spinocerebellar ataxia 27B, late-onset |
| RS2501858298 | Health Risk | Pathogenic | — |
| RS2501931660 | Health Risk | Pathogenic | Spinocerebellar ataxia 27A, Spinocerebellar ataxia 27A |
| RS2548901390 | Health Risk | Pathogenic | Spinocerebellar ataxia 27A, Spinocerebellar ataxia 27A |
| RS587776685 | Health Risk | Pathogenic | Spinocerebellar ataxia 27A, Spinocerebellar ataxia 27A |
| RS865878627 | Health Risk | Pathogenic | Spinocerebellar ataxia 27A, Spinocerebellar ataxia 27A |
| RS2035456443 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2548901839 | Health Risk | Pathogenic/Likely pathogenic | Spinocerebellar ataxia 27A, Spinocerebellar ataxia 27A |