| Variant ID | 30452 |
|---|---|
| Entrez Gene ID | 54790 |
| Gene | TET2 (GeneCards) |
| Location | hg19 4:106157389-106157389
hg38 4:105236232-105236232 |
| Disease | Asymptomatic |
| Method | smMIP |
| Mutation(HGVS format) | NC_000004.11:g.106157389_106157389 ins p (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 764 |
| Amino acid changes in protein | Q > P |
| Frameshift | fs*5 |
| Position in cDNA | 2290 |
| Changes in cDNA | NA > C |
| Indel | dupC |
| mRNA accession | NM_001127208 |
| mRNA length | NA |
| Reference length | 191154276 |
| Deleterious probability by DeFine | 0.8734 (Deleterious) |
|---|
| Entrez Gene ID | 54790 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TET2 (GeneCards) |
| Number of variants in TET2 in this database | 12 (view all the variants) |
| Full name | tet methylcytosine dioxygenase 2 |
| Band | 4q24 |
| Other IDs | Vega: OTTHUMG00000131213 OMIM: 612839 HGNC: HGNC:25941 Ensembl: ENSG00000168769 |
| Other names | MDS, KIAA1546 |
| Summary | The protein encoded by this gene is a methylcytosine dioxygenase that catalyzes the conversion of methylcytosine to 5-hydroxymethylcytosine. The encoded protein is involved in myelopoiesis, and defects in this gene have been associated with several myeloproliferative disorders. Two variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] |
| Individual ID | 28669404.213 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28669404 |
| Whose mosaic mutation | Normal |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 28669404 |
|---|---|
| Title | Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.07 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 223; |