| Variant ID | 1258 |
|---|---|
| Entrez Gene ID | 1788 |
| Gene | DNMT3A (GeneCards) |
| Location | hg19 2:25468920-25468920
hg38 2:25246051-25246051 |
| Disease | Aplastic Anaemia (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000002.11:g.25468920_25468920 ins T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 860 |
| Amino acid changes in protein | W > NA |
| Frameshift | fs |
| Position in cDNA | 2577 |
| Changes in cDNA | NA > A |
| Indel | dupA |
| mRNA accession | NM_175629.2 |
| mRNA length | 4395 |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Deleterious probability by DeFine | 0.9101 (Deleterious) |
| Entrez Gene ID | 1788 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DNMT3A (GeneCards) |
| Number of variants in DNMT3A in this database | 139 (view all the variants) |
| Full name | DNA methyltransferase 3 alpha |
| Band | 2p23.3 |
| Other IDs | Vega: OTTHUMG00000094777 OMIM: 602769 HGNC: HGNC:2978 Ensembl: ENSG00000119772 |
| Other names | TBRS, DNMT3A2, M.HsaIIIA |
| Summary | CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. [provided by RefSeq, Mar 2016] |
| Individual ID | 28699658.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28699658 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Aplastic Anaemia (view all the variants in this disease) |
| OMIM ID | 609135 |
| Pubmed ID | 28699658 |
|---|---|
| Title | Telomere length and somatic mutations in correlation with response to immunosuppressive treatment in aplastic anaemia. |
| Journal | British Journal of Haematology |
| Publication date | 2017.08 |
| Disease | Aplastic Anaemia |
| Number of cases | Male cases: 22; Female cases: 1; cases of unknown sex: 4; |