Annotation Detail
Information
- Associated Genes
- PECAM1
- Associated Variants
- PECAM1 p.Ser563Asn (p.S563N) ( ENST00000563924.6 )
- Associated Disease
- Three Vessel Coronary Disease
- Source Database
- ClinVar
- Description
- NM_000442.5(PECAM1):c.1688G>A (p.Ser563Asn) AND Three Vessel Coronary Disease
- ClinVar Allele ID
- 800898
- ClinVar RefSeq Alternation Syntax
- NM_000442.5:c.1688G>A
- Clinical Significance Description
- Benign
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001003441
- ClinVar Disease
- Three Vessel Coronary Disease
- Observed Origin Sample
- somatic
Drugs