Variant (rsID / SNP)

rs80356586

rs80356586 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOF. Location: chromosome 2, position 26,705,309. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

OTOFLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:26705309
Cytoband: 2p23.3
HGVS: NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr)
Allele change: Missense_I515T

Associated conditions / phenotypes

Auditory neuropathy, autosomal recessive, 1|Autosomal recessive nonsyndromic hearing loss 9|Rare genetic deafness

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.