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Variant (rsID / SNP)

rs192234924

OTOGL

rs192234924 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOGL. Location: chromosome 12, position 80,651,708. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

OTOGLConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:80651708
Cytoband
12q21.31
HGVS
NM_001378609.3(OTOGL):c.1815G>T (p.Gln605His)
Allele change
Missense_Q596H

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.