Variant (rsID / SNP)

rs2314298

rs2314298 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPC3. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GPC3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xq26.2
HGVS: NM_004484.4(GPC3):c.1500T>C (p.Asp500=)
Allele change: Synonymous_D446D

Associated conditions / phenotypes

Wilms tumor 1|History of neurodevelopmental disorder|Hereditary cancer-predisposing syndrome

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.