Annotation Detail

Information
Associated Genes
HBB LOC106099062 LOC107133510
Associated Variants
HBB p.Gln40Glu (p.Q40E) ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB p.Gln40Glu (p.Q40E) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
Source Database
ClinVar
Description
NM_000518.5(HBB):c.118C>G (p.Gln40Glu) AND HEMOGLOBIN VAASA
ClinVar Allele ID
30420
ClinVar RefSeq Alternation Syntax
NM_000518.5:c.118C>G
Clinical Significance Description
other
Clinical Significance Last Update
2017-12-12
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000016633
Observed Origin Sample
germline
Pubmed
111455
Drugs