Annotation Detail

Information
Associated Genes
HBB LOC106099062 LOC107133510
Associated Variants
HBB p.Glu7GlyfsTer13 (p.E7Gfs*13) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.Glu7GlyfsTer13 (p.E7Gfs*13) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
Associated Disease
Beta zero thalassemia
Source Database
ClinVar
Description
NM_000518.5(HBB):c.20del (p.Glu7fs) AND Beta zero thalassemia
ClinVar Allele ID
30457
ClinVar RefSeq Alternation Syntax
NM_000518.5:c.20del
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
1993-12-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000016674
ClinVar Disease
Beta zero thalassemia
Observed Origin Sample
germline
Pubmed
2393712
Pubmed
1734721
Pubmed
8262525
Drugs