| Variant ID | 1375 |
|---|---|
| Entrez Gene ID | 2534 |
| Gene | FYN (GeneCards) |
| Location | hg19 6:112015899-112015899
hg38 6:111694696-111694696 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000006.11:g.112015899 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 351 |
| Amino acid changes in protein | L > NA |
| Position in cDNA | 1051 |
| Changes in cDNA | C > T |
| mRNA accession | NM_002037.5 |
| mRNA length | 3628 |
| Reference length | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.885 |
| CADD Raw score (version 1.3) | 1.48965 (Deleterious) |
| FATHMM raw prediction score | 0.99053 (Tolerated) |
| Deleterious probability by DeFine | 0.9356 (Deleterious) |
| 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 | 28867142.27 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |