Annotation Detail
Information
- Associated Genes
- HBB LOC107133510 LOC110006319
- Associated Variants
-
HBB p.Lys133TrpfsTer4 (p.K133Wfs*4)
(
ENST00000647020.1,
ENST00000335295.4 )
HBB p.Lys133TrpfsTer4 (p.K133Wfs*4) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Ala129ProfsTer12 (p.A129Pfs*12) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Ala129ProfsTer12 (p.A129Pfs*12) ( ENST00000335295.4, ENST00000647020.1 ) - Associated Disease
- Dominant beta-thalassemia
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.[385_388delinsCCACA;397_407del] AND Dominant beta-thalassemia
- ClinVar Allele ID
- 30648
- ClinVar Allele ID
- 857434
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.397_407del
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.385_388delinsCCACA
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2010-06-03
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001789787
- ClinVar Disease
- Dominant beta-thalassemia
- Observed Origin Sample
- germline
- Pubmed
- 20233970
- Pubmed
- 1971109
- Pubmed
- 4361439
Drugs