{{Rsnum
|rsid=80356593
|Gene=OTOF
|Chromosome=2
|position=26477210
|Orientation=minus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=OTOF
}}{{omim
|id=603681
|rsnum=80356593
|variant=0004
}}{{ClinVar
|rsid=80356593
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=26700078
|CHROM=2
|GMAF=0.0005
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000000016110100
|GENEINFO=OTOF:9381
|GENE_NAME=OTOF
|GENE_ID=9381
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.26700078G>A
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1251; 603681.0004
|CLNSIG=5
|CLNCUI=C1832828; C1832828
|CLNDBN=Deafness, autosomal recessive 9; Hereditary hearing loss and deafness
|Disease=Deafness; Hereditary hearing loss and deafness
|CLNACC=RCV000006511.1; RCV000041501.1
|Tags=RV;PM;PMC;SLO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:MedGen:SNOMED_CT
|CLNDSDBID=NBK1251:NBK1434:C1832828:601071:90636; NBK1434:C0236038:95827002
|COMMON=0
}}{{PMID Auto
|PMID=12114484
|Title=Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.
|OA=1
}}

{{PMID Auto
|PMID=14635104
|Title=Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).
}}

{{PMID Auto
|PMID=16371502
|Title=OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.
|OA=1
}}