Variant (rsID / SNP)

rs122453121

rs122453121 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPC3. Clinical significance in the table: Pathogenic.

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Reference-table entries

GPC3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq26.2
HGVS: NM_004484.4(GPC3):c.1159C>T (p.Arg387Ter)
Allele change: Nonsense_R333X

Associated conditions / phenotypes

Simpson-Golabi-Behmel syndrome type 1|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.