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Variant (rsID / SNP)

rs188527711

OTOG

rs188527711 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOG. Location: chromosome 11, position 17,633,764. 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
11:17633764
Cytoband
11p15.1
HGVS
NM_001292063.2(OTOG):c.6179G>T (p.Arg2060Leu)
Allele change
Missense_R2072H

Public references

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