Gene entry
ABCD1
ATP binding cassette subfamily D member 1
- Chromosome
- X
- Cytoband
- Xq28
- Variants (rsID)
- 36
ABCD1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq28). Its official name is “ATP binding cassette subfamily D member 1”. The reference table lists 36 variants (rsID) for this gene.
Clinically classified variants
29 reference-table entries with clinical significance.
- rs78993751Benignsingle nucleotide variantAdrenoleukodystrophy
- rs193922095Conflicting interpretationssingle nucleotide variantAdrenoleukodystrophy
- rs782041940Conflicting interpretationssingle nucleotide variantAdrenoleukodystrophy
- rs128624216Likely pathogenicsingle nucleotide variantAdrenoleukodystrophy
- rs193922094Likely pathogenicsingle nucleotide variantAdrenoleukodystrophy
- rs398123103Likely pathogenicsingle nucleotide variant
- rs128624213Pathogenicsingle nucleotide variantAdrenoleukodystrophy
- rs128624214Pathogenicsingle nucleotide variantAdrenoleukodystrophy
- rs128624215Pathogenicsingle nucleotide variantAdrenoleukodystrophy
- rs128624217Pathogenicsingle nucleotide variantAdrenoleukodystrophy
- rs128624218Pathogenicsingle nucleotide variantAdrenoleukodystrophy|X-linked spondyloepimetaphyseal dysplasia
- rs128624219Pathogenicsingle nucleotide variantAdrenoleukodystrophy
- rs128624220Pathogenicsingle nucleotide variantAdrenoleukodystrophy
- rs128624221Pathogenicsingle nucleotide variantAdrenoleukodystrophy
- rs128624222Pathogenicsingle nucleotide variantAdrenoleukodystrophy
- rs128624223Pathogenicsingle nucleotide variantAdrenoleukodystrophy
- rs128624224Pathogenicsingle nucleotide variantAdrenoleukodystrophy|X-linked spondyloepimetaphyseal dysplasia
- rs128624225Pathogenicsingle nucleotide variantPrimary adrenocortical insufficiency|Adrenoleukodystrophy
- rs193922093PathogenicDuplicationAdrenoleukodystrophy
- rs193922097Pathogenicsingle nucleotide variantAdrenoleukodystrophy
- rs193922098Pathogenicsingle nucleotide variantAdrenoleukodystrophy|History of neurodevelopmental disorder
- rs387906494PathogenicDeletionAdrenoleukodystrophy
- rs398123100Pathogenicsingle nucleotide variantAdrenoleukodystrophy
- rs398123102Pathogenicsingle nucleotide variantAdrenoleukodystrophy
- rs398123106Pathogenicsingle nucleotide variantAdrenoleukodystrophy
- rs398123110Pathogenicsingle nucleotide variant
- rs398123113Pathogenicsingle nucleotide variantAdrenoleukodystrophy
- rs4010613Pathogenicsingle nucleotide variantAdrenoleukodystrophy
- rs713993050PathogenicDuplicationAdrenoleukodystrophy
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.