| Variant ID | 1078 |
|---|---|
| Entrez Gene ID | 200424 |
| Gene | TET3 (GeneCards) |
| Location | hg19 2:74274367-74274367
hg38 2:74047240-74047240 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000002.11:g.74274367 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 441 |
| Amino acid changes in protein | T > T |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.1115 |
| CADD Raw score (version 1.3) | -0.335341 (Deleterious) |
| FATHMM raw prediction score | 0.96604 (Tolerated) |
| Deleterious probability by DeFine | 0.9385 (Deleterious) |
| Entrez Gene ID | 200424 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TET3 (GeneCards) |
| Number of variants in TET3 in this database | 1 (view all the variants) |
| Full name | tet methylcytosine dioxygenase 3 |
| Band | 2p13.1 |
| Other IDs | Vega: OTTHUMG00000152823 OMIM: 613555 HGNC: HGNC:28313 Ensembl: ENSG00000187605 |
| Other names | hCG_40738 |
| Summary | Members of the ten-eleven translocation (TET) gene family, including TET3, play a role in the DNA methylation process (Langemeijer et al., 2009 [PubMed 19923888]).[supplied by OMIM, Nov 2010] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |