FGF13 Chromosome X
Fibroblast growth factor 13
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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. This gene is located in a region on chromosome X, which is associated with Borjeson-Forssman-Lehmann syndrome (BFLS), making it a possible candidate gene for familial cases of the BFLS, and for other syndromal and nonspecific forms of X-linked cognitive disability mapping to this region. Alternative splicing of this gene at the 5' end results in several transcript variants encoding different isoforms with different N-termini. [provided by RefSeq, Nov 2008]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Fibroblast growth factor family"
Locus Type
gene with protein product
Location
Xq26.3-q27.1
Ensembl
ENSG00000129682
Associated Conditions (6)
FGF13-related disorder
Inborn genetic diseases
Intellectual developmental disorder
X-linked 110
Developmental and epileptic encephalopathy
90
Key Variants
RS17510270
Conflicting classifications of pathogenicity
FGF13-related disorder, Inborn genetic diseases, FGF13-related disorder
Health Risk
RS757803941
Conflicting classifications of pathogenicity
Intellectual developmental disorder, X-linked 110, Intellectual developmental disorder
Health Risk
RS2124253547
Likely pathogenic
Developmental and epileptic encephalopathy, 90, Developmental and epileptic encephalopathy
Health Risk
RS2520981115
Likely pathogenic
Developmental and epileptic encephalopathy, 90, Developmental and epileptic encephalopathy
Health Risk
RS2090039606
Pathogenic
Developmental and epileptic encephalopathy, 90, Developmental and epileptic encephalopathy
Health Risk
RS2090039732
Pathogenic
Developmental and epileptic encephalopathy, 90, Developmental and epileptic encephalopathy
Health Risk
RS2090039774
Pathogenic
Developmental and epileptic encephalopathy, 90, Developmental and epileptic encephalopathy
Health Risk
RS2520980831
Pathogenic
Developmental and epileptic encephalopathy, 90, Developmental and epileptic encephalopathy
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS17510270 | Health Risk | Conflicting classifications of pathogenicity | FGF13-related disorder, Inborn genetic diseases, FGF13-related disorder |
| RS757803941 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder, X-linked 110, Intellectual developmental disorder |
| RS2124253547 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 90, Developmental and epileptic encephalopathy |
| RS2520981115 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 90, Developmental and epileptic encephalopathy |
| RS2090039606 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 90, Developmental and epileptic encephalopathy |
| RS2090039732 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 90, Developmental and epileptic encephalopathy |
| RS2090039774 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 90, Developmental and epileptic encephalopathy |
| RS2520980831 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 90, Developmental and epileptic encephalopathy |