Annotation Detail
Information
- Associated Genes
- JAK2 INSL6
- Associated Variants
-
JAK2 p.Val617Phe (p.V617F)
(
ENST00000381652.4 )
JAK2 p.Val617Phe (p.V617F) ( ENST00000381652.4 ) - Associated Disease
- Thrombocythemia 3 acute myeloid leukemia Acquired polycythemia vera Primary myelofibrosis Budd-Chiari syndrome Primary familial polycythemia due to EPO receptor mutation
- Source Database
- ClinVar
- Description
- NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) AND multiple conditions
- ClinVar Allele ID
- 29701
- ClinVar RefSeq Alternation Syntax
- NM_001322198.2:c.634G>T
- ClinVar RefSeq Alternation Syntax
- NM_001322199.2:c.634G>T
- ClinVar RefSeq Alternation Syntax
- NR_169763.1:n.2333G>T
- ClinVar RefSeq Alternation Syntax
- NM_001322195.2:c.1849G>T
- ClinVar RefSeq Alternation Syntax
- NR_169764.1:n.2250G>T
- ClinVar RefSeq Alternation Syntax
- NM_001322194.2:c.1849G>T
- ClinVar RefSeq Alternation Syntax
- NM_001322196.2:c.1849G>T
- ClinVar RefSeq Alternation Syntax
- NM_001322204.2:c.1402G>T
- ClinVar RefSeq Alternation Syntax
- NM_004972.4:c.1849G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000763621
- ClinVar Disease
- Budd-Chiari syndrome
- ClinVar Disease
- Primary myelofibrosis
- ClinVar Disease
- Acquired polycythemia vera
- ClinVar Disease
- Primary familial polycythemia due to EPO receptor mutation
- ClinVar Disease
- Thrombocythemia 3
- ClinVar Disease
- Acute myeloid leukemia
- Observed Origin Sample
- unknown
Drugs