Variant (rsID / SNP)

rs104894921

rs104894921 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POU3F4. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

POU3F4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq21.1
HGVS: NM_000307.5(POU3F4):c.950T>G (p.Leu317Trp)
Allele change: Missense_L317W

Associated conditions / phenotypes

X-linked mixed hearing loss with perilymphatic gusher

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.