Variant (rsID / SNP)

rs28942089

rs28942089 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WT1. Location: chromosome 11, position 32,414,218. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

WT1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:32414218
Cytoband: 11p13
HGVS: NM_024426.6(WT1):c.1348C>T (p.His450Tyr)
Allele change: Missense_H433Y

Associated conditions / phenotypes

Drash syndrome|Nephrotic syndrome, type 4

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.