{{Rsnum
|rsid=80356596
|Chromosome=2
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=OTOF
|position=26475453
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=OTOF
}}{{omim
|id=603681
|rsnum=80356596
|variant=0010
}}{{ClinVar
|rsid=80356596
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=26698321
|CHROM=2
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=OTOF:9381
|GENE_NAME=OTOF
|GENE_ID=9381
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.26698321A>G
|CLNORIGIN=0
|CLNSIG=5
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|CLNACC=RCV000006516.1; RCV000021054.1
|CLNDBN=Auditory neuropathy, autosomal recessive, 1; Deafness, autosomal recessive 9
|CLNDSDB=MedGen; GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=C1832829; NBK1251:NBK1434:C1832828:601071:90636
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK1251; 603681.0010
|Disease=Auditory neuropathy; Deafness
}}{{PMID Auto
|PMID=10192385
|Title=A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.
}}

{{PMID Auto
|PMID=16097006
|Title=A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy.
}}