Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB p.Arg31Ser (p.R31S)
(
ENST00000335295.4,
ENST00000485743.1,
ENST00000647020.1 )
HBB p.Arg31Ser (p.R31S) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- Heinz body anemia
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.93G>T (p.Arg31Ser) AND Heinz body anemia
- ClinVar Allele ID
- 30407
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.93G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2002-02-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000016620
- ClinVar Disease
- Heinz body anemia
- Observed Origin Sample
- germline
- Pubmed
- 5785231
- Pubmed
- 11939506
- Pubmed
- 5869485
- Pubmed
- 3937827
- Pubmed
- 4525423
Drugs