Table 9.

Notable CHKB Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment
NM_005198​.5
NP_005189​.2 		c.598delCp.Gln200ArgfsTer11See Genotype-Phenotype Correlations.
NM_005198​.5 c.677+1G>A--
NM_005198​.5
NP_005189​.2 		c.810T>Ap.Tyr270Ter
NM_005198​.5 c.1031+1G>A--

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: CHKB-Related Muscular Dystrophy

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