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Variant (rsID / SNP)

rs199613764

OTOF

rs199613764 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOF. Location: chromosome 2, position 26,699,014. 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
2:26699014
Cytoband
2p23.3
HGVS
NM_194248.3(OTOF):c.2848G>A (p.Val950Ile)
Allele change
Missense_V950I

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.