Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510 LOC110006319
- Associated Variants
-
HBB p.Glu122Gln (p.E122Q)
(
ENST00000335295.4,
ENST00000647020.1 )
HBB p.Cys94Arg (p.C94R) ( ENST00000647020.1, ENST00000335295.4, ENST00000485743.1 )
HBB p.Glu122Gln (p.E122Q) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Cys94Arg (p.C94R) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Source Database
- ClinVar
- Description
- NM_000518.4(HBB):c.[280T>C;364G>C] AND HEMOGLOBIN CLEVELAND
- ClinVar Allele ID
- 30191
- ClinVar Allele ID
- 30336
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.364G>C
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.280T>C
- 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/RCV000016758
- Observed Origin Sample
- germline
- Pubmed
- 1787096
Drugs