Variant (rsID / SNP)

rs727503430

rs727503430 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A4. Location: chromosome 7, position 107,344,831. 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: 7:107344831
Cytoband: 7q22.3
HGVS: NM_000441.2(SLC26A4):c.2089+1G>A
Allele change: Silent

Associated conditions / phenotypes

Rare genetic deafness|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.