Variant (rsID / SNP)

rs180748688

rs180748688 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOF. Location: chromosome 2, position 26,697,466. Clinical significance in the table: Uncertain significance.

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Reference-table entries

OTOFUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:26697466
Cytoband: 2p23.3
HGVS: NM_194248.3(OTOF):c.3203G>A (p.Arg1068His)
Allele change: Missense_R1068H

Associated conditions / phenotypes

Bilateral sensorineural hearing impairment

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.