Annotation Detail
Information
- Associated Genes
- SH2B3
- Associated Variants
-
SH2B3 p.Trp262Arg (p.W262R)
(
ENST00000341259.7,
ENST00000538307.1 )
SH2B3 p.Trp262Arg (p.W262R) ( ENST00000341259.7, ENST00000538307.1 ) - Associated Disease
- Primary myelofibrosis Thrombocythemia 1 Primary familial polycythemia due to EPO receptor mutation
- Source Database
- ClinVar
- Description
- NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) AND multiple conditions
- ClinVar Allele ID
- 1254915
- ClinVar RefSeq Alternation Syntax
- NM_001291424.1:c.178T>C
- ClinVar RefSeq Alternation Syntax
- NM_005475.3:c.784T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2022-05-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002488461
- ClinVar Disease
- Primary myelofibrosis
- ClinVar Disease
- Thrombocythemia 1
- ClinVar Disease
- Primary familial polycythemia due to EPO receptor mutation
- Observed Origin Sample
- unknown
Drugs