Mutations and Variants in ABCD1

The ALD database reports all mutations and variations conform to the nomenclature recommended by the Human Genome Variation Society. All mutations and variants, including those already published, are annotated using the “Alamut Visual” software package. The variants (VUS (variant of unknown significance), polymorphisms and synonymous variants) reported come from the genome Aggregation Database (gnomAD). The dataset spans 123,136 exomes and 15,496 genomes from unrelated individuals sequenced as part of various disease-specific and population genetic studies. This work has also identified variants in the ABCD1 gene, which are included in the ALD database.
The ALD database is a community-driven project. Its strength lies in the sharing of information through collaborations with many diagnostic centers. If your diagnostic laboratory uses the ALD database as a reference guide, please share your ABCD1 mutations identified with the ALD database to make them available to others (your contribution will be acknowledged).

Go to the mutation database

Last modified | 2018-02-07