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Variant (rsID / SNP)

rs121908362

SLC26A4

rs121908362 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A4. Location: chromosome 7, position 107,350,577. 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
7:107350577
Cytoband
7q22.3
HGVS
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)
Allele change
Missense_H723R

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 4|Pendred syndrome|Rare genetic deafness|SLC26A4-Related Disorders

Public references

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