Variant (rsID / SNP)

rs11539789

rs11539789 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPC3. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

GPC3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xq26.2
HGVS: NM_004484.4(GPC3):c.1285G>A (p.Val429Met)
Allele change: Missense_V375M

Associated conditions / phenotypes

History of neurodevelopmental disorder|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.