NM_002485.5(NBN):c.247A>T (p.Met83Leu) AND Aplastic anemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003465240.1
Allele description [Variation Report for NM_002485.5(NBN):c.247A>T (p.Met83Leu)]
NM_002485.5(NBN):c.247A>T (p.Met83Leu)
Condition(s)
- Name:
- Aplastic anemia
- Identifiers:
- MONDO: MONDO:0015909; MedGen: C0002874; Orphanet: 88; OMIM: 609135; Human Phenotype Ontology: HP:0001915
-
Mus musculus glycoprotein (transmembrane) nmb (Gpnmb), mRNA
Mus musculus glycoprotein (transmembrane) nmb (Gpnmb), mRNAgi|171846252|ref|NM_053110.4|Nucleotide
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Last Updated: May 1, 2024