Table 2.

Selected SLC12A6 Pathogenic Variants

EthnicityDNA Nucleotide Change
(Alias 1)
Protein Amino Acid ChangeReference Sequences
French-Canadianc.2436delGp.Thr813ProfsTer2NM_133647​.1
NP_598408​.1
French-Canadianc.1584_1585delCTinsG 2p.Phe529LeufsTer4
Italianc.2023C>Tp.Arg675Ter
Germanc.2032dup
(2031_2032insT)
p.Tyr678LeufsTer41
c.1478_1485delTTCCCTCTp.Phe493CysfsTer48
Turkc.3031C>T 3p.Arg1011Ter

Note on variant classification: Variants listed in the table have been provided by the authors. 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. An exon 11 pathogenic variant found in a single individual of French-Canadian origin [Howard et al 2002]

3. c.3031C>T can be considered a hotspot since it can occur on different haplotypes (Dutch-Afrikaner and Turkish) [Dupré et al 2003, Uyanik et al 2006, Salin-Cantegrel et al 2007].

From: Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

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