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
- CCR5-related disorder
- Source Database
- ClinVar
- Description
- NM_001394783.1(CCR5):c.554_585del (p.Ser185fs) AND CCR5-related disorder
- 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
- Benign
- Clinical Significance Last Update
- 2019-05-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003974808
- ClinVar Disease
- CCR5-related disorder
- Observed Origin Sample
- germline
Drugs