Variant (rsID / SNP)

rs111033193

rs111033193 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A4. Location: chromosome 7, position 107,338,556. Clinical significance in the table: Likely benign.

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Reference-table entries

SLC26A4Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:107338556
Cytoband: 7q22.3
HGVS: NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=)
Allele change: Synonymous_N538N

Associated conditions / phenotypes

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.