Variant (rsID / SNP)

rs111033200

rs111033200 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A4. Location: chromosome 7, position 107,303,746. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SLC26A4Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:107303746
Cytoband: 7q22.3
HGVS: NM_000441.2(SLC26A4):c.170C>G (p.Ser57Ter)
Allele change: Nonsense_S57X

Associated conditions / phenotypes

Rare genetic deafness|Pendred syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.