| Variant ID | 30420 |
|---|---|
| Entrez Gene ID | 3717 |
| Gene | JAK2 (GeneCards) |
| Location | hg19 9:5073770-5073770
hg38 9:5073770-5073770 |
| Disease | Asymptomatic |
| Method | smMIP |
| Mutation(HGVS format) | NC_000009.11:g.5073770 G>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 617 |
| Amino acid changes in protein | V > F |
| Position in cDNA | 1849 |
| Changes in cDNA | G > T |
| mRNA accession | NM_004972 |
| mRNA length | NA |
| Reference length | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0.0002 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs77375493 |
| Variant IDs in COSMIC (version 89) | 12600 |
| Variant occurences in COSMIC | 128(haematopoietic_and_lymphoid_tissue)|1(central_nervous_system) |
| EIGEN score | 0.8476 |
| CADD Raw score (version 1.3) | 6.873998 (Deleterious) |
| FATHMM raw prediction score | 0.94485 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.085 (Deleterious) |
| PROVEAN score | -3.86 (Deleterious) |
| MetaSVM score | 0.442 (Deleterious) |
| MetaLR score | 0.681 (Deleterious) |
| MCAP score | 0.338 (Deleterious) |
| FitCons score | 0.653 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.51 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.546 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.407 |
| Deleterious probability by iFish2 | 0.8918 (Deleterious) |
| Deleterious probability by DeFine | 0.9662 (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 | 28669404.181 (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; |