NM_000518.5(HBB):c.232del (p.His78fs) AND beta Thalassemia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 25, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001078317.2
Allele description [Variation Report for NM_000518.5(HBB):c.232del (p.His78fs)]
NM_000518.5(HBB):c.232del (p.His78fs)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2022