Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs111033308

SLC26A4

rs111033308 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A4. Location: chromosome 7, position 107,336,429. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SLC26A4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
7:107336429
Cytoband
7q22.3
HGVS
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser)
Allele change
Missense_G497S

Associated conditions / phenotypes

Rare genetic deafness|Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4|Hearing impairment

Public references

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