{{Rsnum
|rsid=111033272
|Chromosome=1
|Orientation=minus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=USH2A
|position=216325499
|Gene_s=USH2A
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=111033272
|Reversed=1
|FwdREF=C
|FwdALT=A
|REF=G
|ALT=T
|RSPOS=216325499
|CHROM=1
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050068000305000002110100
|GENEINFO=USH2A:7399
|GENE_NAME=USH2A
|GENE_ID=7399
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.216325499G>T
|CLNSRC=ClinVar
|CLNORIGIN=1
|CLNSRCID=NM_206933.2:c.949C>A
|CLNSIG=5
|CLNCUI=C1848634
|CLNDBN=Retinitis pigmentosa-deafness syndrome
|Disease=Retinitis pigmentosa-deafness syndrome
|CLNACC=RCV000041956.1
|Tags=RV;PM;PMC;REF;SYN;ASP;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=C0271097:500004:ORPHA231183:ORPHA886:57838006
}}{{PMID Auto
|PMID=15015129
|Title=Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.
|OA=1
}}

{{PMID Auto
|PMID=15043528
|Title=Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.
}}

{{PMID Auto
|PMID=15241801
|Title=USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.
}}

{{PMID Auto
|PMID=15325563
|Title=Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.
}}

{{PMID Auto
|PMID=18273898
|Title=Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
}}