Annotation Detail

Information

Associated Genes: CCR5 CCR5AS
Associated Variants: CCR5 p.Ser185IlefsTer32 (p.S185Ifs*32) ( ENST00000292303.5, ENST00000445772.1 )
CCR5 p.Ser185IlefsTer32 (p.S185Ifs*32) ( ENST00000292303.5, ENST00000445772.1 )
Associated Disease: Resistance to hepatitis C virus
Source Database: ClinVar
Description: NM_001394783.1(CCR5):c.554_585del (p.Ser185fs) AND Resistance to hepatitis C virus
ClinVar Allele ID: 23223
ClinVar RefSeq Alternation Syntax: NM_001394783.1:c.554_585del
ClinVar RefSeq Alternation Syntax: NM_000579.4:c.554_585del
ClinVar RefSeq Alternation Syntax: NM_001100168.2:c.554_585del
Clinical Significance Description: protective
Clinical Significance Last Update: 2008-12-01
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000008665
ClinVar Disease: Resistance to hepatitis C virus
Observed Origin Sample: germline
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