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 )
MPL p.Ser505Asn (p.S505N) ( ENST00000413998.7, ENST00000372470.9 )
MPL p.Trp515Leu (p.W515L) ( ENST00000372470.9, ENST00000413998.7 )
MPL p.Ser505Asn (p.S505N) ( ENST00000372470.9, ENST00000413998.7 )
MPL p.Trp515Leu (p.W515L) ( ENST00000372470.9, ENST00000413998.7 ) - Associated Disease
- Thrombocythemia, Essential
- Source Database
- DisGeNET
- Description
- We developed a novel multiplexed allele-specific PCR assay capable of detecting most recurrent MPL exon 10 mutations associated with primary myelofibrosis and essential thrombocythemia (W515L, W515K, W515A, and S505N) down to a sensitivity of 2.5% mutant allele.
- Pubmed
- 23994117
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.288954139976145
- Year of publication
- 2013
Drugs