| Variant ID | 9090 |
|---|---|
| Entrez Gene ID | 2534 |
| Gene | FYN (GeneCards) |
| Location | hg19 6:112115907-112115907
hg38 6:111794704-111794704 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.112115907 C>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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1575 |
| CADD Raw score (version 1.3) | 0.187616 (Deleterious) |
| FATHMM raw prediction score | 0.20062 (Tolerated) |
| Deleterious probability by DeFine | 0.2951 (Neutral) |
| Entrez Gene ID | 2534 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FYN (GeneCards) |
| Number of variants in FYN in this database | 6 (view all the variants) |
| Full name | FYN proto-oncogene, Src family tyrosine kinase |
| Band | 6q21 |
| Other IDs | Vega: OTTHUMG00000016305 OMIM: 137025 HGNC: HGNC:4037 Ensembl: ENSG00000010810 |
| Other names | SLK, SYN, p59-FYN |
| Summary | This gene is a member of the protein-tyrosine kinase oncogene family. It encodes a membrane-associated tyrosine kinase that has been implicated in the control of cell growth. The protein associates with the p85 subunit of phosphatidylinositol 3-kinase and interacts with the fyn-binding protein. Alternatively spliced transcript variants encoding distinct isoforms exist. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.05 (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; |