Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB c.-78A>C
(
ENST00000647020.1 )
HBB c.-78A>C ( ENST00000647020.1 ) - Associated Disease
- Hb SS disease Erythrocytosis, familial, 6 Beta-thalassemia HBB/LCRB alpha thalassemia Methemoglobinemia, beta-globin type Heinz body anemia Hereditary persistence of fetal hemoglobin Dominant beta-thalassemia Malaria, susceptibility to
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.-78A>C AND multiple conditions
- ClinVar Allele ID
- 30509
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-01-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002482876
- ClinVar Disease
- Hereditary persistence of fetal hemoglobin
- ClinVar Disease
- Beta-thalassemia HBB/LCRB
- ClinVar Disease
- Hb SS disease
- ClinVar Disease
- alpha Thalassemia
- ClinVar Disease
- Malaria, susceptibility to
- ClinVar Disease
- Erythrocytosis, familial, 6
- ClinVar Disease
- Dominant beta-thalassemia
- ClinVar Disease
- Heinz body anemia
- ClinVar Disease
- Methemoglobinemia, beta-globin type
- Observed Origin Sample
- unknown
Drugs