Variant (rsID / SNP)

rs111033393

rs111033393 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOF. Location: chromosome 2, position 26,686,872. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

OTOFConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 2:26686872
Cytoband: 2p23.3
HGVS: NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met)
Allele change: Missense_T1688M

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 9

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.