Variant (rsID / SNP)

rs12304169

rs12304169 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOGL. Location: chromosome 12, position 80,696,475. Clinical significance in the table: Benign.

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Reference-table entries

OTOGLBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:80696475
Cytoband: 12q21.31
HGVS: NM_001378609.3(OTOGL):c.3125A>G (p.Tyr1042Cys)
Allele change: Missense_Y1033C

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.