Annotation Detail

Information

Associated Genes: HBB LOC107133510 LOC110006319
Associated Variants: HBB p.Glu122Gln (p.E122Q) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Glu122Gln (p.E122Q) ( ENST00000335295.4, ENST00000647020.1 )
Source Database: ClinVar
Description: NM_000518.4(HBB):c.364G>C (p.Glu122Gln) AND Hb D-Los Angeles
ClinVar Allele ID: 30191
ClinVar RefSeq Alternation Syntax: NM_000518.5:c.364G>C
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/RCV000016317
Observed Origin Sample: germline
Pubmed: 2887538
Pubmed: 14160125
Pubmed: 13590135
Pubmed: 4078867
Pubmed: 5050915
Pubmed: 4991321
Pubmed: 7338475
Pubmed: 2079437
Pubmed: 2307460
Pubmed: 3557993
Pubmed: 750553
Pubmed: 6322284
Pubmed: 13872094

Drugs