NM_000518.4(HBB):c.19G>A (p.Glu7Lys) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001535943.10
Allele description
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)
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:
- Fetal hemoglobin quantitative trait locus 1 (HBFQTL1)
- Identifiers:
- MedGen: C1841621; Orphanet: 251380
- 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
- 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:
- beta Thalassemia (BTHAL)
- Synonyms:
- Cooley's anemia; Erythroblastic anemia; Mediterranean anemia
- Identifiers:
- MONDO: MONDO:0019402; MedGen: C0005283; Orphanet: 848
Assertion and evidence details
Last Updated: May 1, 2024