NM_000518.5(HBB):c.316-7C>A AND Hb SS disease
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001004563.1
Allele description [Variation Report for NM_000518.5(HBB):c.316-7C>A]
NM_000518.5(HBB):c.316-7C>A
Condition(s)
- Name:
- Hb SS disease (SCD)
- Synonyms:
- Sickle cell anemia; HbS disease; Hemoglobin S Disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011382; MedGen: C0002895; Orphanet: 232; OMIM: 603903
Assertion and evidence details
Last Updated: Sep 29, 2024