Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs149303333

POU4F3

rs149303333 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POU4F3. Location: chromosome 5, position 145,719,938. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

POU4F3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:145719938
Cytoband
5q32
HGVS
NM_002700.3(POU4F3):c.948C>G (p.Asn316Lys)
Allele change
Missense_N316K

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 15

Public references

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