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Variant (rsID / SNP)

rs142799217

OTOG

rs142799217 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOG. Location: chromosome 11, position 17,653,429. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

OTOGConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:17653429
Cytoband
11p15.1
HGVS
NM_001292063.2(OTOG):c.6893G>A (p.Arg2298His)
Allele change
Missense_R2310H

Public references

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