Table 5.

Selected PDX1 Pathogenic Variants

DNA Nucleotide ChangeProtein Amino Acid ChangeReference Sequences
c.188_189delCp.Pro63ArgfsTer60NM_000209​.3
NP_000200​.1
c.492G>Tp.Glu164Asp
c.532G>Ap.Glu178Lys

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.

From: Permanent Neonatal Diabetes Mellitus

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