Variant (rsID / SNP)

rs74315319

rs74315319 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB3. Location: chromosome 1, position 35,250,901. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GJB3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:35250901
Cytoband: 1p34.3
HGVS: NM_024009.3(GJB3):c.538C>T (p.Arg180Ter)
Allele change: Nonsense_R180X

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 2B

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.