Variants in ABCD1
The ABCD1 Variant Database reports all variants in accordance with the nomenclature recommended by the Human Genome Variation Society. All variants, including those that have been published in the past, are annotated using Alamut software. The transcript NM_000033.3 on GRCh37 (hg19) is used as the reference sequence. The ABCD1 Variant Database is a community-driven project. Its strength lies in its collaborative nature, with diagnostic laboratories, researchers, and physicians able to contribute new variants and updates regarding pathogenicity. If you use the ABCD1 Variant Database as a reference guide, then please share ABCD1 variants and/or updates regarding pathogenicity with the ABCD1 Variant Database. This will help us to continuously make improvements (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. Instead, we report cases. An ALD case is defined as an individual who has been diagnosed with clinical signs and symptoms related to ALD (adrenal disease, myeloneuropathy and/or cerebral ALD), and a biochemical or genetic confirmation. Where available in the scientific literature, experimental data were extracted supporting the pathogenicity of a particular variant.
Go to The ABCD1 Variant Database
Last modified | 2023-08-30