Annotation Detail
Information
- Associated Genes
- MPL
- Associated Variants
-
MPL p.Trp515Lys (p.W515K)
(
ENST00000372470.9,
ENST00000413998.7 )
MPL p.Trp515Lys (p.W515K) ( ENST00000372470.9, ENST00000413998.7 ) - Associated Disease
- Myelofibrosis with myeloid metaplasia
- Source Database
- ClinVar
- Description
- NM_005373.3(MPL):c.1543_1544delinsAA (p.Trp515Lys) AND Myelofibrosis with myeloid metaplasia
- ClinVar Allele ID
- 29204
- ClinVar RefSeq Alternation Syntax
- NM_005373.3:c.1543_1544delinsAA
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2006-11-15
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015228
- ClinVar Disease
- Myelofibrosis with myeloid metaplasia
- Observed Origin Sample
- somatic
- Pubmed
- 16868251
Drugs