Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB c.-137C>A
(
ENST00000647020.1 )
HBB c.-137C>A ( ENST00000647020.1 ) - Associated Disease
- alpha thalassemia Fetal hemoglobin quantitative trait locus 1 Malaria, susceptibility to Dominant beta-thalassemia Erythrocytosis, familial, 6 Methemoglobinemia, beta-globin type Hb SS disease beta thalassemia Heinz body anemia
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.-137C>A AND multiple conditions
- ClinVar Allele ID
- 44949
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.-137C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000763257
- ClinVar Disease
- Hb SS disease
- ClinVar Disease
- alpha Thalassemia
- ClinVar Disease
- Fetal hemoglobin quantitative trait locus 1
- ClinVar Disease
- Malaria, susceptibility to
- ClinVar Disease
- Erythrocytosis, familial, 6
- ClinVar Disease
- Dominant beta-thalassemia
- ClinVar Disease
- Heinz body anemia
- ClinVar Disease
- beta Thalassemia
- ClinVar Disease
- Methemoglobinemia, beta-globin type
- Observed Origin Sample
- unknown
Drugs