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: Beta-plus-thalassemia
Source Database: ClinVar
Description: NM_000518.5(HBB):c.79G>A (p.Glu27Lys) AND Beta-plus-thalassemia
ClinVar Allele ID: 30200
ClinVar RefSeq Alternation Syntax: NM_000518.5:c.79G>A
Clinical Significance Description: Pathogenic
Clinical Significance Last Update: 2009-11-03
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000016330
ClinVar Disease: Beta-plus-thalassemia
Observed Origin Sample: germline
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