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Variant (rsID / SNP)

rs192944055

OTOGL

rs192944055 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOGL. Location: chromosome 12, position 80,660,363. 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
12:80660363
Cytoband
12q21.31
HGVS
NM_001378609.3(OTOGL):c.2357T>C (p.Phe786Ser)
Allele change
Missense_F777S

Public references

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