Variant (rsID / SNP)

rs142333075

rs142333075 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOF. Location: chromosome 2, position 26,781,389. 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: 2:26781389
Cytoband: 2p23.3
HGVS: NM_194248.3(OTOF):c.51C>T (p.Gly17=)
Allele change: Synonymous_G17G

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.