Table 3.

Selected KANSL1 Pathogenic Allelic Variants

DNA Nucleotide ChangeProtein Amino Acid ChangeReference Sequences
c.916C>Tp.Gln306TerNM_001193466​.1
NP_001180395​.1
c.1816C>Tp.Arg606Ter
c.1652+1G>ASee footnote 1
c.2785_2786delAGp.Arg929GlyfsTer44
c.1867_1870delp.Ile623AlafsTer6
c.985_986delp.Leu329GlufsTer22

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.

1.

Splice-site mutation resulting in skipping of exon 6, causing a frameshift and premature termination of the KANSL1 mRNA [Koolen et al 2012b]

From: KANSL1-Related Intellectual Disability Syndrome

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