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Variant (rsID / SNP)

rs200511789

SLC26A4

rs200511789 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A4. Location: chromosome 7, position 107,336,408. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC26A4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
7:107336408
Cytoband
7q22.3
HGVS
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu)
Allele change
Missense_I490L

Associated conditions / phenotypes

Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4

Public references

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