Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510 LOC110006319
- Associated Variants
-
HBB p.Glu122Lys (p.E122K)
(
ENST00000647020.1,
ENST00000335295.4 )
HBB p.Glu7Val (p.E7V) ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB p.Glu122Lys (p.E122K) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Glu7Val (p.E7V) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- Sickle cell-Hemoglobin O Arab disease
- Source Database
- ClinVar
- Description
- NM_000518.4(HBB):c.[20A>T;364G>A] AND Sickle cell-Hemoglobin O Arab disease
- ClinVar Allele ID
- 30331
- ClinVar Allele ID
- 30372
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.364G>A
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.20A>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1999-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000016577
- ClinVar Disease
- Sickle cell-Hemoglobin O Arab disease
- Observed Origin Sample
- germline
- Pubmed
- 2930724
- Pubmed
- 9834244
- Pubmed
- 10203101
Drugs