Variant (rsID / SNP)

rs122453119

rs122453119 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPC3. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GPC3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq26.2
HGVS: NM_004484.4(GPC3):c.361C>T (p.His121Tyr)
Allele change: Missense_H67Y

Associated conditions / phenotypes

Wilms tumor 1

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.