Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB p.Glu7Lys (p.E7K)
(
ENST00000485743.1,
ENST00000335295.4,
ENST00000647020.1 )
HBB p.Glu7Lys (p.E7K) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- Hereditary persistence of fetal hemoglobin
- Source Database
- ClinVar
- Description
- NM_000518.4(HBB):c.19G>A (p.Glu7Lys) AND Hereditary persistence of fetal hemoglobin
- ClinVar Allele ID
- 30165
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.19G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-10-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003137529
- ClinVar Disease
- Hereditary persistence of fetal hemoglobin
- Observed Origin Sample
- germline
Drugs