Variant (rsID / SNP)

rs111033345

rs111033345 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POU3F4. Clinical significance in the table: Pathogenic.

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Reference-table entries

POU3F4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq21.1
HGVS: NM_000307.5(POU3F4):c.499C>T (p.Arg167Ter)
Allele change: Nonsense_R167X

Associated conditions / phenotypes

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.