Annotation Detail

Information

Associated Genes: HBB LOC106099062 LOC107133510
Associated Variants: HBB p.Glu27Lys (p.E27K) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.Glu27Lys (p.E27K) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
Associated Disease: Malaria, resistance to
Source Database: ClinVar
Description: NM_000518.5(HBB):c.79G>A (p.Glu27Lys) AND Malaria, resistance to
ClinVar Allele ID: 30200
ClinVar RefSeq Alternation Syntax: NM_000518.5:c.79G>A
Clinical Significance Description: protective
Clinical Significance Last Update: 2009-11-03
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000016332
ClinVar Disease: Malaria, resistance to
Observed Origin Sample: germline
Pubmed: 13716853
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Pubmed: 11425418
Pubmed: 15114532
Pubmed: 5658717
Pubmed: 16114182
Pubmed: 4351905
Pubmed: 6280057
Pubmed: 14091853
Pubmed: 12149194
Pubmed: 9653159
Pubmed: 15470211
Pubmed: 6275383
Pubmed: 19841268
Pubmed: 7395858
Pubmed: 3031297
Pubmed: 12850492
Pubmed: 18568278
Pubmed: 8839873
Pubmed: 1960615

Drugs