ClinGen Knowledge Base | Clinical Genome Resource

PCSK9

Name: PCSK9
HGNC ID: HGNC:20001
Cytogenetic Location: 1p32.3
Triplosensitivity: No Evidence

External Resources: View external resources
ClinVar Variants: View ClinVar Variants
GeneReviews®: View GeneReviews

PCSK9 - hypercholesterolemia, autosomal dominant, 3 | MONDO:0011369

Curated by	Classification	Date	Report
Clinical Actionability	View report for scoring details	05/21/2018	View report

PCSK9

Curated by	Classification	Date	Report
Gene Dosage Sensitivity	No Evidence for Triplosensitivity	06/01/2017	View report

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.

About ClinGen
Resources & Tools
GenomeConnect
How to share your data
Learn about ClinGen curation activities
Site Map
Contact ClinGen