Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB p.Glu27Lys (p.E27K)
(
ENST00000485743.1,
ENST00000335295.4,
ENST00000647020.1 )
HBB p.Glu27Lys (p.E27K) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- Dominant beta-thalassemia Heinz body anemia beta thalassemia Fetal hemoglobin quantitative trait locus 1 Malaria, susceptibility to Hb SS disease Methemoglobinemia, beta-globin type alpha thalassemia Erythrocytosis, familial, 6
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.79G>A (p.Glu27Lys) AND multiple conditions
- ClinVar Allele ID
- 30200
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.79G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-06-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001536065
- 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