NM_000518.5(HBB):c.17_18del (p.Pro6fs) AND Beta zero thalassemia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 1, 1989
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000016678.36
Allele description [Variation Report for NM_000518.5(HBB):c.17_18del (p.Pro6fs)]
NM_000518.5(HBB):c.17_18del (p.Pro6fs)
Condition(s)
- Name:
- Beta zero thalassemia
- Identifiers:
- MedGen: C0271980
Assertion and evidence details
Last Updated: Mar 23, 2024