Table 7.

Notable SACS Pathogenic Variants

Reference SequencesDNA Nucleotide Change
(Alias 1)		Predicted
Protein Change		Comment [Reference]
NM_014363​.5
NP_055178​.3 		c.8844delT
(g.6594delT)		p.Ile2949PhefsTer4Founder variants in persons from northeastern Quebec [Mercier et al 2001]
c.7504C>T
(g.5254C>T)		p.Arg2502Ter
c.10907G>Ap.Arg3636GlnBelgian founder variant [Richter et al 1999, Baets et al 2010]
c.12160C>Tp.Gln4054TerCommon among Dutch persons w/ARSACS [Vermeer et al 2008]

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.

1.

Variant designation that does not conform to current naming conventions

From: ARSACS

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