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
- congenital amegakaryocytic thrombocytopenia
- Source Database
- ClinVar
- Description
- NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) AND Congenital amegakaryocytic thrombocytopenia
- ClinVar Allele ID
- 29203
- ClinVar RefSeq Alternation Syntax
- NM_005373.3:c.1544G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2016-10-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000501989
- ClinVar Disease
- Congenital amegakaryocytic thrombocytopenia
- Observed Origin Sample
- germline
Drugs