| Variant ID | 1395 |
|---|---|
| Entrez Gene ID | 3717 |
| Gene | JAK2 (GeneCards) |
| Location | hg19 9:5077578-5077578
hg38 9:5077578-5077578 |
| Disease | Aplastic Anaemia (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000009.11:g.5077578_5077578 del (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 664 |
| Amino acid changes in protein | L > I |
| Position in cDNA | 1990 |
| Changes in cDNA | C > A |
| mRNA accession | NM_001322194.1 |
| mRNA length | 5386 |
| Reference length | 141213431 |
| Deleterious probability by DeFine | 0.8719 (Deleterious) |
|---|
| Entrez Gene ID | 3717 (NCBI Gene) |
|---|---|
| Official Gene Symbol | JAK2 (GeneCards) |
| Number of variants in JAK2 in this database | 15 (view all the variants) |
| Full name | Janus kinase 2 |
| Band | 9p24.1 |
| Other IDs | Vega: OTTHUMG00000019490 OMIM: 147796 HGNC: HGNC:6192 Ensembl: ENSG00000096968 |
| Other names | JTK10, THCYT3 |
| Summary | This gene product is a protein tyrosine kinase involved in a specific subset of cytokine receptor signaling pathways. It has been found to be constituitively associated with the prolactin receptor and is required for responses to gamma interferon. Mice that do not express an active protein for this gene exhibit embryonic lethality associated with the absence of definitive erythropoiesis. [provided by RefSeq, Jul 2008] |
| Individual ID | 28699658.09 (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; |