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Variant (rsID / SNP)

rs56054534

OTOF

rs56054534 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOF. Location: chromosome 2, position 26,696,374. 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
2:26696374
Cytoband
2p23.3
HGVS
NM_194248.3(OTOF):c.3470G>A (p.Arg1157Gln)
Allele change
Missense_R1157Q

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 9

Public references

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