Variant (rsID / SNP)

rs28941779

rs28941779 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WT1. Location: chromosome 11, position 32,413,572. Clinical significance in the table: Pathogenic.

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Reference-table entries

WT1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:32413572
Cytoband: 11p13
HGVS: NM_024426.6(WT1):c.1393T>C (p.Phe465Leu)
Allele change: Missense_F448L

Associated conditions / phenotypes

Frasier 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.