Variant (rsID / SNP)

rs121908363

rs121908363 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A4. Location: chromosome 7, position 107,350,571. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC26A4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:107350571
Cytoband: 7q22.3
HGVS: NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met)
Allele change: Missense_T721M

Associated conditions / phenotypes

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

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.