Variant (rsID / SNP)

rs111033254

rs111033254 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A4. Location: chromosome 7, position 107,338,530. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SLC26A4Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:107338530
Cytoband: 7q22.3
HGVS: NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His)
Allele change: Missense_Y530H

Associated conditions / phenotypes

Pendred syndrome|Rare genetic deafness

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.