Annotation Detail

Information
Associated Genes
MPL
Associated Variants
MPL p.Trp515Leu (p.W515L) ( ENST00000372470.9, ENST00000413998.7 )
MPL p.Trp515Leu (p.W515L) ( ENST00000372470.9, ENST00000413998.7 )
Associated Disease
Hematologic neoplasm
Source Database
ClinVar
Description
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) AND Hematologic neoplasm
ClinVar Allele ID
29203
ClinVar RefSeq Alternation Syntax
NM_005373.3:c.1544G>T
Clinical Significance Description
Likely pathogenic
Clinical Significance Last Update
2014-12-26
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000422740
ClinVar Disease
Hematologic neoplasm
Observed Origin Sample
somatic
Drugs