Variant (rsID / SNP)

rs60284988

rs60284988 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A4. Location: chromosome 7, position 107,301,201. 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: 7:107301201
Cytoband: 7q22.3
HGVS: NM_000441.1(SLC26A4):c.-103T>C
Allele change: Silent

Associated conditions / phenotypes

Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4|SLC26A4-Related Disorders|Hearing impairment

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.