Variant (rsID / SNP)

rs111033316

rs111033316 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A4. Location: chromosome 7, position 107,336,481. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC26A4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:107336481
Cytoband: 7q22.3
HGVS: NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg)
Allele change: Missense_Q514R

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.