Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB p.Val24Ile (p.V24I)
(
ENST00000485743.1,
ENST00000335295.4,
ENST00000647020.1 )
HBB p.Glu7Val (p.E7V) ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB p.Val24Ile (p.V24I) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Glu7Val (p.E7V) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- HEMOGLOBIN S (ANTILLES)
- Source Database
- ClinVar
- Description
- NM_000518.4(HBB):c.[20A>T;70G>A] AND HEMOGLOBIN S (ANTILLES)
- ClinVar Allele ID
- 38470
- ClinVar Allele ID
- 30372
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.20A>T
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.70G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1997-06-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000016576
- ClinVar Disease
- HEMOGLOBIN S (ANTILLES)
- Observed Origin Sample
- germline
- Pubmed
- 2189492
- Pubmed
- 9166865
- Pubmed
- 3467311
Drugs