Variant (rsID / SNP)
rs111033313
rs111033313 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A4. Location: chromosome 7, position 107,323,898. Clinical significance in the table: Pathogenic.
Reference-table entries
SLC26A4Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:107323898
- Cytoband
- 7q22.3
- HGVS
- NM_000441.2(SLC26A4):c.919-2A>G
- Allele change
- Silent
Associated conditions / phenotypes
Autosomal recessive nonsyndromic hearing loss 4|Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4|Pendred syndrome|Rare genetic deafness|Hearing loss, autosomal recessive
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.