Annotation Detail
Information
- Associated Genes
- CETP
- Associated Variants
-
CETP p.Ala390Pro (p.A390P)
(
ENST00000200676.8,
ENST00000379780.6,
ENST00000566128.1 )
CETP p.Ala390Pro (p.A390P) ( ENST00000200676.8, ENST00000379780.6, ENST00000566128.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000078.3(CETP):c.1168G>C (p.Ala390Pro) AND not provided
- ClinVar Allele ID
- 335542
- ClinVar RefSeq Alternation Syntax
- NM_000078.3:c.1168G>C
- ClinVar RefSeq Alternation Syntax
- NM_001286085.2:c.988G>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001597085
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs