NM_002485.5(NBN):c.896+2T>C AND Aplastic anemia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003467475.1
Allele description [Variation Report for NM_002485.5(NBN):c.896+2T>C]
NM_002485.5(NBN):c.896+2T>C
Condition(s)
- Name:
- Aplastic anemia
- Identifiers:
- MONDO: MONDO:0015909; MedGen: C0002874; Orphanet: 88; OMIM: 609135; Human Phenotype Ontology: HP:0001915
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CADTH Issues in Emerging Health Technologies
CADTH Issues in Emerging Health Technologies
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Taxonomy Links for Protein (Select 1621387585) (1)
Taxonomy
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Last Updated: Sep 29, 2024