Annotation Detail
Information
- Associated Genes
- CCR5 CCR5AS
- Associated Variants
-
CCR5 c.-301+246A>G
CCR5 c.-301+246A>G - Associated Disease
- CCR5 PROMOTER POLYMORPHISM
- Source Database
- ClinVar
- Description
- NM_000579.4(CCR5):c.-301+246A>G AND CCR5 PROMOTER POLYMORPHISM
- ClinVar Allele ID
- 23228
- ClinVar RefSeq Alternation Syntax
- NM_000579.4:c.-301+246A>G
- ClinVar RefSeq Alternation Syntax
- NM_001100168.2:c.-66+246A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2003-07-08
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008674
- ClinVar Disease
- CCR5 PROMOTER POLYMORPHISM
- Observed Origin Sample
- germline
- Pubmed
- 9742978
- Pubmed
- 12815099
Drugs