Annotation Detail

Information

Associated Genes: HBB LOC106099062 LOC107133510
Associated Variants: HBB p.Glu7Lys (p.E7K) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.Glu7Lys (p.E7K) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
Associated Disease: HEMOGLOBIN C
Source Database: ClinVar
Description: NM_000518.4(HBB):c.19G>A (p.Glu7Lys) AND HEMOGLOBIN C
ClinVar Allele ID: 30165
ClinVar RefSeq Alternation Syntax: NM_000518.5:c.19G>A
Clinical Significance Description: Pathogenic
Clinical Significance Last Update: 2011-12-02
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000016284
ClinVar Disease: HEMOGLOBIN C
Observed Origin Sample: germline
Pubmed: 9556665
Pubmed: 2239966
Pubmed: 17774955
Pubmed: 15973412
Pubmed: 13115700
Pubmed: 13685866
Pubmed: 11713529
Pubmed: 13108995
Pubmed: 11001883
Pubmed: 7137165
Pubmed: 14613965
Pubmed: 15000665
Pubmed: 8201467
Pubmed: 7229029
Pubmed: 14405428
Pubmed: 2412200
Pubmed: 14808148
Pubmed: 16175509
Pubmed: 20305663
Pubmed: 22075726
Pubmed: 1680789
Pubmed: 18048408
Pubmed: 13618691
Pubmed: 14492555

Drugs