Annotation Detail

Information
Associated Genes
HBB LOC106099062 LOC107133510
Associated Variants
HBB p.Ser10ValfsTer14 (p.S10Vfs*14) ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB p.Ser10ValfsTer14 (p.S10Vfs*14) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
Associated Disease
Hb SS disease
Source Database
ClinVar
Description
NM_000518.5(HBB):c.27dup (p.Ser10fs) AND Hb SS disease
ClinVar Allele ID
44972
ClinVar RefSeq Alternation Syntax
NM_000518.5:c.27dup
Clinical Significance Description
Pathogenic
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001004357
ClinVar Disease
Hb SS disease
Observed Origin Sample
germline
Drugs