Variant (rsID / SNP)

rs111033317

rs111033317 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A4. Location: chromosome 7, position 107,338,490. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SLC26A4Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Insertion
Chromosome / position: 7:107338490
Cytoband: 7q22.3
HGVS: NM_000441.2(SLC26A4):c.1548_1549insC (p.Ser517fs)

Associated conditions / phenotypes

Rare genetic deafness

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.