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Variant (rsID / SNP)

rs199588131

SLC26A4

rs199588131 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A4. Location: chromosome 7, position 107,342,451. 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
7:107342451
Cytoband
7q22.3
HGVS
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu)
Allele change
Missense_D661E

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.