Annotation Detail

Information

Associated Genes: HBB LOC106099062 LOC107133510
Associated Variants: HBB p.Glu7Val (p.E7V) ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB p.Glu7Val (p.E7V) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
Associated Disease: Malaria, resistance to
Source Database: ClinVar
Description: NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND Malaria, resistance to
ClinVar Allele ID: 30372
ClinVar RefSeq Alternation Syntax: NM_000518.5:c.20A>T
Clinical Significance Description: protective
Clinical Significance Last Update: 2011-12-02
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000016575
ClinVar Disease: Malaria, resistance to
Observed Origin Sample: germline
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