Variant (rsID / SNP)
rs183159689
rs183159689 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOGL. Location: chromosome 12, position 80,665,473. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
OTOGLConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:80665473
- Cytoband
- 12q21.31
- HGVS
- NM_001378609.3(OTOGL):c.2564C>T (p.Pro855Leu)
- Allele change
- Missense_P846L
Associated conditions / phenotypes
Hearing impairment
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.