Variant (rsID / SNP)

rs122453120

rs122453120 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPC3. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GPC3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Cytoband: Xq26.2
HGVS: NM_004484.4(GPC3):c.1705G>A (p.Ala569Thr)
Allele change: Missense_A515T

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.