Annotation Detail
Information
- Associated Genes
- HBB LOC107133510 LOC110006319
- Associated Variants
-
HBB p.Cys113Arg (p.C113R)
(
ENST00000335295.4,
ENST00000647020.1 )
HBB p.Cys113Arg (p.C113R) ( ENST00000335295.4, ENST00000647020.1 ) - Associated Disease
- Heinz body anemia
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.337T>C (p.Cys113Arg) AND Heinz body anemia
- ClinVar Allele ID
- 30246
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.337T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1991-03-25
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000016393
- ClinVar Disease
- Heinz body anemia
- Observed Origin Sample
- germline
- Pubmed
- 2005117
- Pubmed
- 721609
- Pubmed
- 3781865
- Pubmed
- 5698750
Drugs