Table 7.

Notable INSR Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_000208​.4
NP_000199​.2 		c.167T>Cp.Ile56ThrFounder variant in the Druze from Israel [Falik Zaccai et al 2014]
c.3003_3012del10insGGAAGp.Ser1001ArgfsTer37Identified in 3 persons from 2 unrelated families of Tunisian origin [Siala-Sahnoun et al 2016]

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: INSR-Related Severe Insulin Resistance Syndrome

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