| Variant ID | 16092 |
|---|---|
| Entrez Gene ID | 8074 |
| Gene | FGF23 (GeneCards) |
| Location | hg19 12:4528414-4528414
hg38 12:4419248-4419248 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.4528414 A>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3934 |
| CADD Raw score (version 1.3) | -0.369311 (Deleterious) |
| FATHMM raw prediction score | 0.10419 (Tolerated) |
| Deleterious probability by DeFine | 0.4518 (Neutral) |
| Entrez Gene ID | 8074 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FGF23 (GeneCards) |
| Number of variants in FGF23 in this database | 1 (view all the variants) |
| Full name | fibroblast growth factor 23 |
| Band | 12p13.32 |
| Other IDs | Vega: OTTHUMG00000168241 OMIM: 605380 HGNC: HGNC:3680 Ensembl: ENSG00000118972 |
| Other names | ADHR, FGFN, HYPF, HFTC2, HPDR2, PHPTC |
| Summary | 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] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |