Variant (rsID / SNP)
rs148690740
rs148690740 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOA. Location: chromosome 16, position 21,734,300. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
OTOAPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:21734300
- Cytoband
- 16p12.2
- HGVS
- NM_144672.4(OTOA):c.1880+1G>A
- Allele change
- Silent
Associated conditions / phenotypes
Rare genetic deafness
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.