Variant (rsID / SNP)

rs191608225

rs191608225 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOGL. Location: chromosome 12, position 80,616,011. Clinical significance in the table: Uncertain significance.

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Reference-table entries

OTOGLUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:80616011
Cytoband: 12q21.31
HGVS: NM_001378609.3(OTOGL):c.475C>T (p.Arg159Trp)
Allele change: Missense_R150W

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 84B

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.