TCOF1 Mutation Database


About this Database

The initiative to create this database was based on the growing number of mutations in the TCOF1 gene and the importance of using a consensus nomenclature. Besides, a novel exon in the TCOF1 gene was recently identified, implying in a different cDNA numbering and a need to modify the already known mutations accordingly. Our aims are to provide TCOF1 researchers and other related professionals with up to date information about individual mutations and polymorphisms in the TCOF1 gene. While we will continue to ensure the quality of the data, we urge the international community to give us feedbacks and suggestions. For information related to this mutation database, please send email to

Criteria for identification of pathogenic mutations

Our criteria for assigning a pathogenic status to a given mutation was:

Sequence variants that were found in a control (unaffected) population with frequency ≥ 1% were classified as polymorphisms.

Pathogenic Mutations

Polymorphic Mutations

Rare Mutations not Found in Normal Chromossomes

Translated cDNA



Last update: July,11 2004