Table 6.

SLC6A3 Pathogenic Variants Referenced in This GeneReview

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_001044​.5
NP_001035​.1 		c.1857G>Cp.Lys619AsnAssoc w/AD SLC6A3-related DTDS [Herborg et al 2021]

AD = autosomal dominant; DTDS = dopamine transporter deficiency syndrome

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: SLC6A3-Related Dopamine Transporter Deficiency Syndrome

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