{{Rsnum
|rsid=111033367
|Chromosome=1
|Orientation=minus
|geno1=(-;-)
|geno2=(-;CT)
|geno3=(CT;CT)
|Gene=USH2A
|position=216190280
|Gene_s=USH2A
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=111033367
|Reversed=1
|FwdREF=CT
|FwdALT=
|REF=CAG
|ALT=C
|RSPOS=216190279
|CHROM=1
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050068001205000002100200
|GENEINFO=USH2A:7399
|GENE_NAME=USH2A
|GENE_ID=7399
|WGT=1
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.216190280_216190281delAG
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;PMC;NSF;REF;ASP;OTHERKG;LSD
|CLNACC=RCV000041840.1
|CLNDBN=Retinitis pigmentosa-deafness syndrome
|CLNDSDB=MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=C0271097:500004:ORPHA231183:ORPHA886:57838006
|Disease=Retinitis pigmentosa-deafness syndrome
|CLNSRC=ClinVar
|CLNSRCID=NM_206933.2:c.4338_4339delCT
}}{{PMID|10729113|OA=1
}} Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

{{PMID|18665195|OA=1
}} An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.