NM_002485.5(NBN):c.1565_1566insTA (p.Leu522fs) AND Aplastic anemia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003470290.1
Allele description [Variation Report for NM_002485.5(NBN):c.1565_1566insTA (p.Leu522fs)]
NM_002485.5(NBN):c.1565_1566insTA (p.Leu522fs)
Condition(s)
- Name:
- Aplastic anemia
- Identifiers:
- MONDO: MONDO:0015909; MedGen: C0002874; Orphanet: 88; OMIM: 609135; Human Phenotype Ontology: HP:0001915
-
AGENCOURT_78596992 NICHD_XGC_thy Xenopus laevis cDNA clone IMAGE:8550976 3', mRN...
AGENCOURT_78596992 NICHD_XGC_thy Xenopus laevis cDNA clone IMAGE:8550976 3', mRNA sequencegi|95010598|gnl|dbEST|39152562|gb|E 82.1|Nucleotide
-
Polymerase (DNA directed), mu [Mus musculus]
Polymerase (DNA directed), mu [Mus musculus]gi|33440487|gb|AAH56213.1|Protein
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Last Updated: Dec 30, 2023