NM_198253.3(TERT):c.2003A>C (p.Glu668Ala) AND Aplastic anemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001155361.4
Allele description [Variation Report for NM_198253.3(TERT):c.2003A>C (p.Glu668Ala)]
NM_198253.3(TERT):c.2003A>C (p.Glu668Ala)
Condition(s)
- Name:
- Aplastic anemia
- Identifiers:
- MONDO: MONDO:0015909; MedGen: C0002874; Orphanet: 88; OMIM: 609135; Human Phenotype Ontology: HP:0001915
Assertion and evidence details
Last Updated: Aug 5, 2023