Variant (rsID / SNP)
rs111033256
rs111033256 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A4. Location: chromosome 7, position 107,315,505. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
SLC26A4Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:107315505
- Cytoband
- 7q22.3
- HGVS
- NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
- Allele change
- Missense_V239D
Associated conditions / phenotypes
Rare genetic deafness|Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4|Hearing loss, autosomal recessive|Autosomal recessive nonsyndromic hearing loss 4|Pendred syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.