Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB p.Lys83? (p.K83?)
(
ENST00000485743.1,
ENST00000335295.4,
ENST00000647020.1 )
HBB p.Glu7Val (p.E7V) ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB p.Lys83? (p.K83?) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Glu7Val (p.E7V) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- HEMOGLOBIN S (PROVIDENCE)
- Source Database
- ClinVar
- Description
- NM_000518.4(HBB):c.[20A>T;249G>Y] AND HEMOGLOBIN S (PROVIDENCE)
- ClinVar Allele ID
- 30372
- ClinVar Allele ID
- 30358
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.249G>Y
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.20A>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1988-10-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000016579
- ClinVar Disease
- HEMOGLOBIN S (PROVIDENCE)
- Observed Origin Sample
- germline
- Pubmed
- 3191036
Drugs