FGF23 Chromosome 12
Fibroblast growth factor 23
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What This Gene Does
This gene encodes a member of the fibroblast growth factor family of proteins, which possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. The product of this gene regulates phosphate homeostasis and transport in the kidney. The full-length, functional protein may be deactivated via cleavage into N-terminal and C-terminal chains. Mutation of this cleavage site causes autosomal dominant hypophosphatemic rickets (ADHR). Mutations in this gene are also associated with hyperphosphatemic familial tumoral calcinosis (HFTC). [provided by RefSeq, Feb 2013]
Gene Info
Gene Group
"Receptor ligands|Fibroblast growth factor family"
Locus Type
gene with protein product
Location
12p13.32
Ensembl
ENSG00000118972
Associated Conditions (10)
Tumoral calcinosis
hyperphosphatemic
familial
1
2
Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
Autosomal dominant hypophosphatemic rickets
Inborn genetic diseases
Hypophosphatemic rickets
Short stature
Key Variants
RS104894342
Conflicting classifications of pathogenicity
Tumoral calcinosis, hyperphosphatemic, familial
Health Risk
RS1064795205
Conflicting classifications of pathogenicity
Health Risk
RS13312800
Conflicting classifications of pathogenicity
Tumoral calcinosis, hyperphosphatemic, familial
Health Risk
RS13312801
Conflicting classifications of pathogenicity
Tumoral calcinosis, hyperphosphatemic, familial
Health Risk
RS144925325
Conflicting classifications of pathogenicity
Autosomal dominant hypophosphatemic rickets, Tumoral calcinosis, hyperphosphatemic
Health Risk
RS183802802
Conflicting classifications of pathogenicity
Tumoral calcinosis, hyperphosphatemic, familial
Health Risk
RS190841442
Conflicting classifications of pathogenicity
Tumoral calcinosis, hyperphosphatemic, familial
Health Risk
RS368115734
Conflicting classifications of pathogenicity
Autosomal dominant hypophosphatemic rickets, Tumoral calcinosis, hyperphosphatemic
Health Risk
RS531815578
Conflicting classifications of pathogenicity
Tumoral calcinosis, hyperphosphatemic, familial
Health Risk
RS566868058
Conflicting classifications of pathogenicity
Autosomal dominant hypophosphatemic rickets, Tumoral calcinosis, hyperphosphatemic
Health Risk
RS573322878
Conflicting classifications of pathogenicity
Tumoral calcinosis, hyperphosphatemic, familial
Health Risk
RS753676774
Conflicting classifications of pathogenicity
Autosomal dominant hypophosphatemic rickets, Tumoral calcinosis, hyperphosphatemic
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894342 | Health Risk | Conflicting classifications of pathogenicity | Tumoral calcinosis, hyperphosphatemic, familial |
| RS1064795205 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS13312800 | Health Risk | Conflicting classifications of pathogenicity | Tumoral calcinosis, hyperphosphatemic, familial |
| RS13312801 | Health Risk | Conflicting classifications of pathogenicity | Tumoral calcinosis, hyperphosphatemic, familial |
| RS144925325 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant hypophosphatemic rickets, Tumoral calcinosis, hyperphosphatemic |
| RS183802802 | Health Risk | Conflicting classifications of pathogenicity | Tumoral calcinosis, hyperphosphatemic, familial |
| RS190841442 | Health Risk | Conflicting classifications of pathogenicity | Tumoral calcinosis, hyperphosphatemic, familial |
| RS368115734 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant hypophosphatemic rickets, Tumoral calcinosis, hyperphosphatemic |
| RS531815578 | Health Risk | Conflicting classifications of pathogenicity | Tumoral calcinosis, hyperphosphatemic, familial |
| RS566868058 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant hypophosphatemic rickets, Tumoral calcinosis, hyperphosphatemic |
| RS573322878 | Health Risk | Conflicting classifications of pathogenicity | Tumoral calcinosis, hyperphosphatemic, familial |
| RS753676774 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant hypophosphatemic rickets, Tumoral calcinosis, hyperphosphatemic |
| RS758725402 | Health Risk | Conflicting classifications of pathogenicity | Tumoral calcinosis, hyperphosphatemic, familial |
| RS765478662 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant hypophosphatemic rickets, Tumoral calcinosis, hyperphosphatemic |
| RS193922701 | Health Risk | Likely pathogenic | Autosomal dominant hypophosphatemic rickets, Autosomal dominant hypophosphatemic rickets |
| RS2497236074 | Health Risk | Likely pathogenic | Autosomal dominant hypophosphatemic rickets, Autosomal dominant hypophosphatemic rickets |
| RS863224872 | Health Risk | Likely pathogenic | Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome, Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome |
| RS104894343 | Health Risk | Pathogenic | Tumoral calcinosis, hyperphosphatemic, familial |
| RS104894344 | Health Risk | Pathogenic | Tumoral calcinosis, hyperphosphatemic, familial |
| RS104894347 | Health Risk | Pathogenic | Autosomal dominant hypophosphatemic rickets, Autosomal dominant hypophosphatemic rickets |
| RS193922702 | Health Risk | Pathogenic | Autosomal dominant hypophosphatemic rickets, Hypophosphatemic rickets, Tumoral calcinosis |
| RS754201217 | Health Risk | Pathogenic | — |
| RS1220533001 | Health Risk | Pathogenic/Likely pathogenic | Tumoral calcinosis, hyperphosphatemic, familial |
| RS1555096583 | Health Risk | Pathogenic/Likely pathogenic | Tumoral calcinosis, hyperphosphatemic, familial |
| RS28937882 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant hypophosphatemic rickets, Autosomal dominant hypophosphatemic rickets |