Annotation Detail
Information
- Associated Genes
- MPL
- Associated Variants
-
MPL p.Ser505Asn (p.S505N)
(
ENST00000413998.7,
ENST00000372470.9 )
MPL p.Ser505Asn (p.S505N) ( ENST00000372470.9, ENST00000413998.7 ) - Associated Disease
- Thrombocythemia 2
- Source Database
- ClinVar
- Description
- NM_005373.3(MPL):c.1514G>A (p.Ser505Asn) AND Thrombocythemia 2
- ClinVar Allele ID
- 29202
- ClinVar RefSeq Alternation Syntax
- NM_005373.3:c.1514G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2009-10-08
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015226
- ClinVar Disease
- Thrombocythemia 2
- Observed Origin Sample
- germline
- Pubmed
- 14764528
- Pubmed
- 19483125
Drugs