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
- not provided
- Source Database
- ClinVar
- Description
- NM_005373.3(MPL):c.1514G>A (p.Ser505Asn) AND not provided
- ClinVar Allele ID
- 29202
- ClinVar RefSeq Alternation Syntax
- NM_005373.3:c.1514G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-06-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001543455
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs