NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp) AND Aplastic anemia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003473914.2
Allele description [Variation Report for NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp)]
NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp)
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: Sep 29, 2024