Variant (rsID / SNP)
rs111033341
rs111033341 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOF. Location: chromosome 2, position 26,712,077. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
OTOFConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:26712077
- Cytoband
- 2p23.3
- HGVS
- NM_194248.3(OTOF):c.1045+2T>G
- Allele change
- Silent
Associated conditions / phenotypes
Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 9
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
