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Table 2 Identified CDH23 variant and in silico molecular genetic analysis

From: Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss

Gene name Transcript accession number cDNA change Protein change Position (GRCh38/hg18) REVEL MutationTaster SIFT Polyphen 2 ACMG Classification
CDH23 NM_0221 24;exon52 c.7630T > G p.Leu2544Val chr10:71803045 Benign (0.025) Disease causing (0.999999989) Benign (0.393) Benign (0.002) Uncertain Significance (PM2 + BP4 + BS4)
CDH23 NM_0221 24;exon56 c.8257G > A p.Ala2753Thr chr10:71807355 Benign (0.363) Disease causing (0.999999778) Benign (0.01) Benign (0.032) Uncertain Significance (PM2 + BP4 + BS4)