NM_000407.5(GP1BB):c.137G>A (p.Trp46Ter) AND Increased mean platelet volume
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001003919.1
Allele description [Variation Report for NM_000407.5(GP1BB):c.137G>A (p.Trp46Ter)]
NM_000407.5(GP1BB):c.137G>A (p.Trp46Ter)
Condition(s)
- Name:
- Increased mean platelet volume
- Identifiers:
- MedGen: C1096367; Human Phenotype Ontology: HP:0011877
Assertion and evidence details
Last Updated: Apr 23, 2022