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Variant (rsID / SNP)

rs80338848

SLC26A4

rs80338848 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A4. Location: chromosome 7, position 107,315,496. 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
7:107315496
Cytoband
7q22.3
HGVS
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)
Allele change
Missense_L236P

Associated conditions / phenotypes

Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4|Pendred syndrome|SLC26A4-Related Disorders|Rare genetic deafness|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.