NM_000518.5(HBB):c.380T>G (p.Val127Gly) AND Hemoglobinopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2004
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000016741.15
Allele description [Variation Report for NM_000518.5(HBB):c.380T>G (p.Val127Gly)]
NM_000518.5(HBB):c.380T>G (p.Val127Gly)
Condition(s)
- Name:
- Hemoglobinopathy
- Synonyms:
- Hemoglobin disorder; Haemoglobinopathies
- Identifiers:
- MONDO: MONDO:0044348; MedGen: C0019045
Assertion and evidence details
Last Updated: Mar 23, 2024