Table 3. Selected VPS13B (COH1) Pathologic Allelic Variants

DNA Nucleotide Change
(Alias 1)
Protein Amino Acid ChangeReference Sequences
c.3348_3349delCTp.Cys1117Phefs*8NM_017890​.3
NP_060360​.3
c.8459T>Cp.Ile2820Thr
c.9259dupT
(c.9258_9259insT)
p.Leu3087Phefs*20

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.

1. Variant designation that does not conform to current naming conventions

From: Cohen Syndrome

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