NM_002485.5(NBN):c.1666G>A (p.Val556Met) AND Aplastic anemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 4, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001292842.1
Allele description [Variation Report for NM_002485.5(NBN):c.1666G>A (p.Val556Met)]
NM_002485.5(NBN):c.1666G>A (p.Val556Met)
Condition(s)
- Name:
- Aplastic anemia
- Identifiers:
- MONDO: MONDO:0015909; MedGen: C0002874; Orphanet: 88; OMIM: 609135; Human Phenotype Ontology: HP:0001915
-
Mus musculus calmodulin regulated spectrin-associated protein 1-like 1, mRNA (cD...
Mus musculus calmodulin regulated spectrin-associated protein 1-like 1, mRNA (cDNA clone MGC:178819 IMAGE:9053811), complete cdsgi|219521644|gb|BC145258.1|Nucleotide
-
ACSBG1 [Desmodus rotundus]
ACSBG1 [Desmodus rotundus]Gene ID:112305988Gene
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Last Updated: Sep 29, 2024