Variants in ABCD1
The ALD Variant Database reports all (likely) pathogenic and benign variants conform to the nomenclature recommended by the Human Genome Variation Society. All 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 Variant Database.
The ALD Variant 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 Variant Database as a reference guide, please share your ABCD1 variants identified with the ALD Variant Database to make them available to others (your contribution will be acknowledged).
Because ABCD1 pathogenic variants have no predictive value with respect to the clinical outcome of an individual patient no phenotypic information is provided.
Go to The ALD Variant Database
Last modified | 2022-01-10