Variant (rsID / SNP)

rs145899319

rs145899319 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOF. Location: chromosome 2, position 26,681,001. 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: 2:26681001
Cytoband: 2p23.3
HGVS: NM_194323.3(OTOF):c.3600C>T (p.Ile1200=)
Allele change: Silent

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.