Variant (rsID / SNP)
rs117005078
rs117005078 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOG. Location: chromosome 11, position 17,621,218. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
OTOGConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:17621218
- Cytoband
- 11p15.1
- HGVS
- NM_001292063.2(OTOG):c.3683C>T (p.Pro1228Leu)
- Allele change
- Missense_P1240L
Associated conditions / phenotypes
Meniere disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
