PerMed FH - Personalising diagnosis and treatment for Familial Hypercholeserolaemia patients

Variant Platform

An interactive interface for querying and visualising ACMG-classified variants in key FH genes.

Search for a Functional Study of a Genetic Variant

Variant details will be displayed here once a search is performed.

PerMed FH - Functional Studies Resource

This resource was developed as part of the PerMed FH project to enhance the diagnosis of familial hypercholesterolaemia (FH) and support personalised treatment by sharing data from functional studies on FH variants. Previously published variants are also included, and the database will be regularly updated with new findings from the PerMedFH project.
The project leading to these results has received funding from “la Caixa” Foundation and FCT, I.P. under the project code: LCF/PR/HP23/52330032. Views and opinions expressed are however those of the author(s) only and do not necessarily reflect those of the "la Caixa" Foundation or the FCT. Neither "la Caixa" Foundation nor the FCT can be held responsible for them.
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