{{Rsnum
|rsid=111033260
|Chromosome=10
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=PCDH15
|position=54317414
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PCDH15
}}{{omim
|id=605514
|rsnum=111033260
|variant=0004
}}{{ClinVar
|rsid=111033260
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=56077174
|CHROM=10
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050068000000040002110100
|GENEINFO=PCDH15:65217
|GENE_NAME=PCDH15
|GENE_ID=65217
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.56077174G>A
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1265; 605514.0004
|CLNSIG=5
|CLNCUI=C1865885
|CLNDBN=Usher syndrome, type 1F; Hereditary hearing loss and deafness; Retinitis pigmentosa-deafness syndrome; Usher syndrome, type 1G
|Disease=Usher syndrome; Hereditary hearing loss and deafness; Retinitis pigmentosa-deafness syndrome; Usher syndrome
|CLNACC=RCV000005218.1; RCV000039771.1; RCV000055970.1
|Tags=RV;PM;PMC;VLD;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet; GeneReviews:MedGen:SNOMED_CT; MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1265:C1865885:602083:231169:886; NBK1434:C0236038:95827002; C0271097:500004:231183:886:57838006; NBK1265:C1847089:606943:231169:886
}}{{PMID Auto
|PMID=12711741
|Title=A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.
}}

{{PMID Auto
|PMID=15028842
|Title=The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.
}}