Variant (rsID / SNP)

rs80356590

rs80356590 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOF. Location: chromosome 2, position 26,702,224. Clinical significance in the table: Pathogenic.

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Reference-table entries

OTOFPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:26702224
Cytoband: 2p23.3
HGVS: NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter)
Allele change: Nonsense_R708X

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 9|Rare genetic deafness|Hearing loss, autosomal recessive|Nonsyndromic genetic hearing loss

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.