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Table 3. SIX1 Pathologic Allelic Variants Discussed in this GeneReview

DNA Nucleotide ChangeProtein Amino Acid ChangeReference Sequences
c.50T>Ap.Val17GluNM_005982​.3
NP_005973​.1
c.317T>Gp.Val106Gly
c.328C>Tp.Arg110Trp
c.334C>Tp.Arg112Cys
c.386A>Gp.Tyr129Cys
c.397_399delGAGp.Glu133del

Note on variant classification: Variants listed in the table have been provided by the author(s). 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.

From: Branchiootorenal Spectrum Disorders

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GeneReviews® [Internet].
Pagon RA, Adam MP, Ardinger HH, et al., editors.
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