Variant (rsID / SNP)

rs186893662

rs186893662 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOG. Location: chromosome 11, position 17,574,923. Clinical significance in the table: Uncertain significance.

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Reference-table entries

OTOGUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:17574923
Cytoband: 11p15.1
HGVS: NM_001292063.2(OTOG):c.397G>A (p.Gly133Ser)
Allele change: Missense_G145S

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 18B|Hearing impairment

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.