Mutations and Variants in ABCD1
The ALD Mutation 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 data set 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 Mutation Database.
The ALD Mutation 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 Mutation Database as a reference guide, please share your ABCD1 mutations identified with the ALD Mutation Database to make them available to others (your contribution will be acknowledged).
Because ABCD1 mutations have no predictive value with respect to the clinical outcome of an individual patient no phenotypic information is provided.
Go to The ALD Mutation Database
Last modified | 2019-05-08