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Variant (rsID / SNP)

rs146281367

SLC26A4

rs146281367 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A4. Location: chromosome 7, position 107,323,982. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SLC26A4Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
7:107323982
Cytoband
7q22.3
HGVS
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)
Allele change
Missense_G334E

Associated conditions / phenotypes

Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4|Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4|Hearing loss, autosomal recessive

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.