NM_000518.4(HBB):c.68A>T (p.Glu23Val) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 9, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002490376.1
Allele description [Variation Report for NM_000518.4(HBB):c.68A>T (p.Glu23Val)]
NM_000518.4(HBB):c.68A>T (p.Glu23Val)
Condition(s)
- Name:
- Dominant beta-thalassemia
- Synonyms:
- DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE; Beta-thalassemia, dominant inclusion body type
- Identifiers:
- MONDO: MONDO:0011381; MedGen: C1858990; Orphanet: 231226; Orphanet: 848; OMIM: 603902
- Name:
- Heinz body anemia
- Synonyms:
- Heinz body anemias; Heinz body hemolytic anemia
- Identifiers:
- MONDO: MONDO:0007705; MedGen: C0700299; Orphanet: 178330; OMIM: 140700; Human Phenotype Ontology: HP:0005511
- 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
- Name:
- alpha Thalassemia
- Synonyms:
- A-Thalassemia; Alpha thalassemia spectrum
- Identifiers:
- MONDO: MONDO:0011399; MedGen: C0002312; Orphanet: 846; OMIM: 604131
- Name:
- Malaria, susceptibility to
- Identifiers:
- MONDO: MONDO:0021024; MedGen: C1970028; Orphanet: 673; OMIM: 611162
- Name:
- METHEMOGLOBINEMIA, BETA TYPE
- Synonyms:
- Methemoglobinemia, beta-globin type
- Identifiers:
- MedGen: C1840779; OMIM: 617971
- Name:
- Erythrocytosis, familial, 6
- Synonyms:
- ERYTHROCYTOSIS, BETA-GLOBIN TYPE; POLYCYTHEMIA, BETA-GLOBIN TYPE
- Identifiers:
- MONDO: MONDO:0054801; MedGen: C4693822; OMIM: 617980
Assertion and evidence details
Last Updated: Jul 15, 2024