Variant (rsID / SNP)
rs111033199
rs111033199 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A4. Location: chromosome 7, position 107,312,690. Clinical significance in the table: Pathogenic.
Reference-table entries
SLC26A4Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:107312690
- Cytoband
- 7q22.3
- HGVS
- NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe)
- Allele change
- Missense_V138F
Associated conditions / phenotypes
Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4|Pendred syndrome|SLC26A4-Related Disorders|Rare genetic deafness|Hearing impairment|Autosomal recessive nonsyndromic hearing loss 4
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.