Variant (rsID / SNP)

rs397516423

rs397516423 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A4. Location: chromosome 7, position 107,342,392. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SLC26A4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:107342392
Cytoband: 7q22.3
HGVS: NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro)
Allele change: Missense_S642P

Associated conditions / phenotypes

Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4

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.