Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB p.Leu69Phe (p.L69F)
(
ENST00000335295.4,
ENST00000485743.1,
ENST00000647020.1 )
HBB p.Glu7Val (p.E7V) ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB p.Leu69Phe (p.L69F) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Glu7Val (p.E7V) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Source Database
- ClinVar
- Description
- NM_000518.4(HBB):c.[205C>T;20A>T] AND HEMOGLOBIN JAMAICA PLAIN
- ClinVar Allele ID
- 30652
- ClinVar Allele ID
- 30372
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.205C>T
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.20A>T
- Clinical Significance Description
- other
- Clinical Significance Last Update
- 2017-12-12
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000016879
- Observed Origin Sample
- germline
- Pubmed
- 15470216
- Pubmed
- 6166632
Drugs