FH Mutation Database

In this database you can find all mutations in the LDL-receptor and apoB genes, that are related to inherited hypercholesterolemia, identified by the Laboratory of the Human Genetics department. Most mutations have been found in patients of Dutch origin, but a substantial number has been found in patients from all over the world. We have included detailed information on nucleotide position, amino acid change, country or region of origin, frequency and functionality. Additionally we have added literature references where available. If you can not find a mutation that is known to be present in The Netherlands, please feel free to contact Joep Defesche so that we can update our database.

Type a (partial) mutation name OR nucleotide position OR location OR nucleotide change OR country and hit enter.

Mutation: eg. W23X
Nucleotide position: eg. 131
Location: eg. exon 2
Nucleotide change: eg. TGG to TAG
Mutation found in: eg. The Netherlands