Table 3.

SIX1 Pathogenic Variants Discussed in This GeneReview

DNA Nucleotide ChangePredicted Protein ChangeReference Sequences
c.50T>Ap.Val17Glu NM_005982​.3
NP_005973​.1
c.317T>Gp.Val106Gly
c.328C>Tp.Arg110Trp
c.334C>Tp.Arg112Cys
c.373G>Ap.Gly125Lys
c.386A>Gp.Tyr129Cys
c.397_399delGAGp.Glu133del

Variants listed in the table have been provided by the author. 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: Branchiootorenal Spectrum Disorder

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