{{Rsnum
|rsid=41281314
|Gene=CDH23
|Chromosome=10
|position=71730514
|Orientation=plus
|GMAF=0.03489
|Gene_s=CDH23,C10orf105
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{omim
|id=605516
|rsnum=41281314
|variant=0013
}}{{ClinVar
|rsid=41281314
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=73490271
|CHROM=10
|GMAF=0.0348
|dbSNPBuildID=127
|SSR=0
|SAO=1
|VP=0x05036800000017051e110100
|GENEINFO=C10orf105:414152; CDH23:64072
|GENE_NAME=C10orf105; CDH23
|GENE_ID=414152; 64072
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.73490271A>G
|CLNORIGIN=1
|Tags=PM;PMC;S3D;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;LSD;OM
|CAF=0.9651; 0.03489
|CLNACC=RCV000005210.1; RCV000039159.1; RCV000086973.1
|CLNDBN=Reclassified - variant of unknown significance; AllHighlyPenetrant; not provided
|CLNDSDB=MedGen
|CLNDSDBID=CN169374
|CLNSIG=2
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=605516.0013
|COMMON=1
|Disease=Reclassified - variant of unknown significance; AllHighlyPenetrant; not provided
}}{{PMID Auto
|PMID=12075507
|Title=CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
|OA=1
}}

{{PMID Auto
|PMID=15537665
|Title=Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.
|OA=1
}}

{{PMID Auto
|PMID=18273900
|Title=Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing.
}}{{GET Evidence
|gene=CDH23
|aa_change=Thr1207Ala
|aa_change_short=T1207A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs41281314
|overall_frequency_n=479
|overall_frequency_d=10126
|overall_frequency=0.047304
|n_genomes=8
|n_genomes_annotated=0
|n_haplomes=8
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=3
|webscore=N
}}