| Variant ID | 30442 |
|---|---|
| Entrez Gene ID | 54790 |
| Gene | TET2 (GeneCards) |
| Location | hg19 4:106156741-106156741
hg38 4:105235584-105235584 |
| Disease | Asymptomatic |
| Method | smMIP |
| Mutation(HGVS format) | NC_000004.11:g.106156741 C>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 548 |
| Amino acid changes in protein | Q > K |
| Position in cDNA | 1642 |
| Changes in cDNA | C > A |
| mRNA accession | NM_001127208 |
| mRNA length | NA |
| Reference length | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.7687 |
| CADD Raw score (version 1.3) | 0.647062 (Deleterious) |
| FATHMM raw prediction score | 0.17999 (Tolerated) |
| SIFT score | 0.046 (Deleterious) |
| LRT score | 0.26 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 2.47 (Deleterious) |
| PROVEAN score | -1.44 (Tolerated) |
| MetaSVM score | -0.995 (Tolerated) |
| MetaLR score | 0.041 (Tolerated) |
| MCAP score | 0.029 (Deleterious) |
| FitCons score | 0.646 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.76 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.38 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.003 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.444 |
| Deleterious probability by iFish2 | 0.0296 (Neutral) |
| Deleterious probability by DeFine | 0.7804 (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 | 28669404.203 (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; |