NM_000517.6(HBA2):c.379G>A (p.Asp127Asn) AND not provided
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Oct 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001284150.20
Allele description [Variation Report for NM_000517.6(HBA2):c.379G>A (p.Asp127Asn)]
NM_000517.6(HBA2):c.379G>A (p.Asp127Asn)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Aug 25, 2024