NM_001083116.3(PRF1):c.449C>A (p.Ser150Ter) AND Aplastic anemia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003475454.1
Allele description [Variation Report for NM_001083116.3(PRF1):c.449C>A (p.Ser150Ter)]
NM_001083116.3(PRF1):c.449C>A (p.Ser150Ter)
Condition(s)
- Name:
- Aplastic anemia
- Identifiers:
- MONDO: MONDO:0015909; MedGen: C0002874; Orphanet: 88; OMIM: 609135; Human Phenotype Ontology: HP:0001915
Assertion and evidence details
Last Updated: Feb 20, 2024