Table 3.

Notable TDP1 Pathogenic Variants

Reference SequencesDNA Nucleotide
Change		Predicted
Protein Change		Comment [Reference]
NM_018319​.4
NP_060789​.2 		c.1478A>Gp.His493ArgFounder variant reported in 2 apparently unrelated Omani families [Scott et al 2019]; also reported in an unrelated Saudi Arabian family [Takashima et al 2002]

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

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

From: Spinocerebellar Ataxia with Axonal Neuropathy Type 1

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