Variant (rsID / SNP)
rs111033212
rs111033212 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A4. Location: chromosome 7, position 107,329,499. Clinical significance in the table: Likely pathogenic.
Reference-table entries
SLC26A4Likely pathogenic
- Clinical significance (as recorded)
- Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:107329499
- Cytoband
- 7q22.3
- HGVS
- NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
- Allele change
- Missense_F335L
Associated conditions / phenotypes
Autosomal recessive nonsyndromic hearing loss 4|Autosomal recessive nonsyndromic hearing loss 4|Pendred syndrome|Pendred syndrome|SLC26A4-Related Disorders|Rare genetic deafness|SLC26A4-related disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.