Annotation Detail
Information
- Associated Genes
- HBB LOC107133510 LOC110006319
- Associated Variants
-
HBB c.316-2A>G
(
ENST00000335295.4,
ENST00000647020.1 )
HBB c.316-2A>G ( ENST00000335295.4, ENST00000647020.1 ) - Associated Disease
- Erythrocytosis, familial, 6 Malaria, susceptibility to Hereditary persistence of fetal hemoglobin Beta-thalassemia HBB/LCRB Dominant beta-thalassemia Heinz body anemia Methemoglobinemia, beta-globin type alpha thalassemia Hb SS disease
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.316-2A>G AND multiple conditions
- ClinVar Disease
- Hb SS disease
- ClinVar Disease
- alpha Thalassemia
- ClinVar Allele ID
- 34043
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.316-2A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-02-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002504815
- ClinVar Disease
- Hereditary persistence of fetal hemoglobin
- ClinVar Disease
- Beta-thalassemia HBB/LCRB
- 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