NM_002485.5(NBN):c.1622C>G (p.Ala541Gly) AND Aplastic anemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003468996.1
Allele description [Variation Report for NM_002485.5(NBN):c.1622C>G (p.Ala541Gly)]
NM_002485.5(NBN):c.1622C>G (p.Ala541Gly)
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: Mar 5, 2024