NM_000517.6(HBA2):c.210_211insT (p.Val71fs) AND Heinz body anemia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001420424.3
Allele description [Variation Report for NM_000517.6(HBA2):c.210_211insT (p.Val71fs)]
NM_000517.6(HBA2):c.210_211insT (p.Val71fs)
Condition(s)
- Name:
- Heinz body anemia
- Synonyms:
- Heinz body anemias; Heinz body hemolytic anemia
- Identifiers:
- MONDO: MONDO:0007705; MedGen: C0700299; Orphanet: 178330; OMIM: 140700; Human Phenotype Ontology: HP:0005511
Assertion and evidence details
Last Updated: Aug 4, 2024