| Variant ID | 30448 |
|---|---|
| Entrez Gene ID | 54790 |
| Gene | TET2 (GeneCards) |
| Location | hg19 4:106156687-106156687
hg38 4:105235530-105235530 |
| Disease | Asymptomatic |
| Method | smMIP |
| Mutation(HGVS format) | NC_000004.11:g.106156687 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 530 |
| Amino acid changes in protein | Q > * |
| Position in cDNA | 1588 |
| Changes in cDNA | C > T |
| mRNA accession | NM_001127208 |
| mRNA length | NA |
| Reference length | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4929 |
| CADD Raw score (version 1.3) | 7.976622 (Deleterious) |
| FATHMM raw prediction score | 0.60158 (Tolerated) |
| LRT score | 0 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.73 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.47 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.941 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.103 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.195 |
| Deleterious probability by DeFine | 0.7856 (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 | 28669404.209 (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; |