Variant (rsID / SNP)

rs141100113

rs141100113 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPC3. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GPC3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq26.2
HGVS: NM_004484.4(GPC3):c.826G>A (p.Gly276Ser)
Allele change: Missense_G222S

Associated conditions / phenotypes

History of neurodevelopmental disorder|Wilms tumor 1|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.