Table 9.

Usher Syndrome Type II: USH2A Notable Pathogenic Variants

Reference SequencesDNA Nucleotide
Change
Predicted Protein
Change
Comment [Reference]
NM_206933​.2
NP_996816​.2
c.2276G>Tp.Cys759PheCommon pathogenic variant w/reported allele frequency of 5%-10%
c.2299delGp.Glu767SerfsTer21Common pathogenic variant w/reported allele frequency of >20%
c.4338_4339delCTp.Cys1447GlnfsTer29Founder variant in French-Canadians [Ebermann et al 2009]

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: Usher Syndrome Type II

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