Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB p.Cys94Arg (p.C94R)
(
ENST00000647020.1,
ENST00000335295.4,
ENST00000485743.1 )
HBB p.Cys94Arg (p.C94R) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.280T>C (p.Cys94Arg) AND HEMOGLOBIN OKAZAKI
- ClinVar Allele ID
- 30336
- 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/RCV000016530
- Observed Origin Sample
- germline
- Pubmed
- 6745435
Drugs