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
- thrombocytosis
- Source Database
- DisGeNET
- Description
- A unique point mutation, serine 505 to asparagine 505 (Ser505Asn), was identified in the transmembrane domain of the c-MPL gene in all of the 8 members with thrombocythemia, but in none of the other 8 unaffected members in this FET family.
- Pubmed
- 14764528
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.138693270390077
- Year of publication
- 2004
Drugs