Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs727504993

SLC26A4

rs727504993 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A4. Location: chromosome 7, position 107,329,546. 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
7:107329546
Cytoband
7q22.3
HGVS
NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=)
Allele change
Synonymous_L350L

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 4|Pendred syndrome

Public references

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