Variant (rsID / SNP)
rs111033407
rs111033407 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A4. Location: chromosome 7, position 107,335,063. Clinical significance in the table: Pathogenic.
Reference-table entries
SLC26A4Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 7:107335063
- Cytoband
- 7q22.3
- HGVS
- NM_000441.1(SLC26A4):c.1342-2_1343dup
Associated conditions / phenotypes
Rare genetic deafness|Pendred syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.