| Variant ID | 17956 |
|---|---|
| Entrez Gene ID | 2259 |
| Gene | FGF14 (GeneCards) |
| Location | hg19 13:103202666-103202666
hg38 13:102550316-102550316 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.103202666 A>G (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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1718 |
| CADD Raw score (version 1.3) | 0.133629 (Deleterious) |
| FATHMM raw prediction score | 0.12306 (Tolerated) |
| Deleterious probability by DeFine | 0.2632 (Neutral) |
| Entrez Gene ID | 2259 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FGF14 (GeneCards) |
| Number of variants in FGF14 in this database | 15 (view all the variants) |
| Full name | fibroblast growth factor 14 |
| Band | 13q33.1 |
| Other IDs | Vega: OTTHUMG00000017303 OMIM: 601515 HGNC: HGNC:3671 Ensembl: ENSG00000102466 |
| Other names | FHF4, FHF-4, SCA27, FGF-14 |
| Summary | 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] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |