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
- CCR2-related disorder
- Source Database
- ClinVar
- Description
- NM_001123396.4(CCR2):c.190G>A (p.Val64Ile) AND CCR2-related disorder
- 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
- Benign
- Clinical Significance Last Update
- 2019-10-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003982833
- ClinVar Disease
- CCR2-related disorder
- Observed Origin Sample
- germline
Drugs