NM_198253.3(TERT):c.1269C>T (p.Ala423=) AND Aplastic anemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 16, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001155486.12
Allele description [Variation Report for NM_198253.3(TERT):c.1269C>T (p.Ala423=)]
NM_198253.3(TERT):c.1269C>T (p.Ala423=)
Condition(s)
- Name:
- Aplastic anemia
- Identifiers:
- MONDO: MONDO:0015909; MedGen: C0002874; Orphanet: 88; OMIM: 609135; Human Phenotype Ontology: HP:0001915
-
gp108 [Erwinia phage vB_EamP-S6]
gp108 [Erwinia phage vB_EamP-S6]gi|422935947|ref|YP_007005844.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024