Annotation Detail

Information
Associated Genes
CCR2
Associated Variants
CCR2 p.Val64Ile (p.V64I) ( ENST00000400888.2, ENST00000445132.3 )
CCR2 p.Val64Ile (p.V64I) ( ENST00000400888.2, ENST00000445132.3 )
Associated Disease
Susceptibility to HIV infection
Source Database
ClinVar
Description
NM_001123396.4(CCR2):c.190G>A (p.Val64Ile) AND Susceptibility to HIV infection
ClinVar Allele ID
23306
ClinVar RefSeq Alternation Syntax
NM_001123396.4:c.190G>A
ClinVar RefSeq Alternation Syntax
NM_001123041.3:c.190G>A
Clinical Significance Description
protective
Clinical Significance Last Update
2015-05-18
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000008756
ClinVar Disease
Susceptibility to HIV infection
Observed Origin Sample
germline
Pubmed
9252328
Pubmed
9662369
Drugs