Gene entry
OTOF
otoferlin
- Chromosome
- 2
- Cytoband
- 2p23.3
- Variants (rsID)
- 100
OTOF is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p23.3). Its official name is “otoferlin”. The reference table lists 100 variants (rsID) for this gene.
Clinically classified variants
58 reference-table entries with clinical significance.
- rs13004993Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs139767460Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs145239283Benignsingle nucleotide variant
- rs17005371Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs41288773Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs61740776Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9|Bilateral sensorineural hearing impairment
- rs61746568Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs72853726Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs75624587Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs80356569Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs80356570Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs111033329Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs111033341Conflicting interpretationssingle nucleotide variantRare genetic deafness|Autosomal recessive nonsyndromic hearing loss 9
- rs111033351Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs111033393Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs111033396Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs138885901Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs140613217Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs141235641Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs142333075Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs144800506Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs145019640Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs145589784Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs145899319Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs148532589Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs150452778Conflicting interpretationssingle nucleotide variant
- rs181805996Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs184605839Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs199613764Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs200010052Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs200191563Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs397517941Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs41286009Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs56054534Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs61744348Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs61747283Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs77414333Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs80356573Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs80356576Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs80356592Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9
- rs138151478Likely benignsingle nucleotide variantNonsyndromic genetic hearing loss
- rs111033342Likely pathogenicsingle nucleotide variantRare genetic deafness
- rs111033349Likely pathogenicsingle nucleotide variantRare genetic deafness|Autosomal recessive nonsyndromic hearing loss 9
- rs111033370Likely pathogenicInsertionRare genetic deafness
- rs111033373Likely pathogenicsingle nucleotide variantRare genetic deafness|Autosomal recessive nonsyndromic hearing loss 9|Nonsyndromic genetic hearing loss
- rs397515607Likely pathogenicMicrosatelliteAutosomal recessive nonsyndromic hearing loss 9|Rare genetic deafness
- rs80356586Likely pathogenicsingle nucleotide variantAuditory neuropathy, autosomal recessive, 1|Autosomal recessive nonsyndromic hearing loss 9|Rare genetic deafness
- rs111033383Pathogenicsingle nucleotide variantRare genetic deafness|Autosomal recessive nonsyndromic hearing loss 9|Bilateral sensorineural hearing impairment
- rs111033405Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9|Rare genetic deafness|Bilateral sensorineural hearing impairment|Nonsyndromic genetic hearing loss
- rs370132645Pathogenicsingle nucleotide variantRare genetic deafness
- rs80356590Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9|Rare genetic deafness|Hearing loss, autosomal recessive|Nonsyndromic genetic hearing loss
- rs80356591PathogenicDeletionAutosomal recessive nonsyndromic hearing loss 9|Rare genetic deafness|Bilateral sensorineural hearing impairment
- rs80356593Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9|Rare genetic deafness|Nonsyndromic genetic hearing loss
- rs111033455Uncertain significancesingle nucleotide variantRare genetic deafness
- rs137986959Uncertain significancesingle nucleotide variant
- rs142284613Uncertain significancesingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9|Nonsyndromic genetic hearing loss
- rs180748688Uncertain significancesingle nucleotide variantBilateral sensorineural hearing impairment
- rs199766465Uncertain significancesingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 9|Nonsyndromic genetic hearing loss
Other listed variants
- rs869439
- rs939817
- rs1011108
- rs1554481
- rs3739075
- rs4462752
- rs4665334
- rs4665336
- rs4665866
- rs6733921
- rs6747194
- rs7556908
- rs7559985
- rs7590084
- rs7592040
- rs7592657
- rs9679392
- rs10167513
- rs10211477
- rs10495760
- rs11126533
- rs11682534
- rs12621611
- rs13025681
- rs34780859
- rs41288777
- rs56342346
- rs74479487
- rs75660317
- rs77507980
- rs78260954
- rs79154370
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.