NM_002485.5(NBN):c.1958dup (p.Leu654fs) AND Aplastic anemia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003470737.2
Allele description [Variation Report for NM_002485.5(NBN):c.1958dup (p.Leu654fs)]
NM_002485.5(NBN):c.1958dup (p.Leu654fs)
Condition(s)
- Name:
- Aplastic anemia
- Identifiers:
- MONDO: MONDO:0015909; MedGen: C0002874; Orphanet: 88; OMIM: 609135; Human Phenotype Ontology: HP:0001915
-
protein APCDD1-like isoform 1 precursor [Homo sapiens]
protein APCDD1-like isoform 1 precursor [Homo sapiens]gi|23503291|ref|NP_699191.1|Protein
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Last Updated: Sep 29, 2024