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Variant (rsID / SNP)

rs111033305

SLC26A4

rs111033305 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A4. Location: chromosome 7, position 107,330,645. 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
7:107330645
Cytoband
7q22.3
HGVS
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)
Allele change
Missense_R409H

Associated conditions / phenotypes

Rare genetic deafness|Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4|Hearing loss, autosomal recessive|Ear malformation

Public references

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