Table 2.

Selected Allelic Variants within the XDP Critical Region

Gene / Locus SymbolClass of Variant AlleleDNA Nucleotide Change Protein Amino Acid Change
(Alias 1)
Reference Sequences
TAF1/DYT3Pathogenic / markerc.94C>Tp.Arg32Cys
(DSC3)
AJ549245​.1 2

Note on variant classification: Variants listed in the table have been provided by the author. GeneReviews staff have not independently verified the classification of variants.

Note on nomenclature: GeneReviews follows the standard naming conventions of the Human Genome Variation Society (www​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Variant designation that does not conform to current naming conventions

2.

The variant c.94C>T (p.Arg32Cys) is named on the reference sequence for DYT3.

From: X-Linked Dystonia-Parkinsonism

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