Variant (rsID / SNP)
rs121907909
rs121907909 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WT1. Location: chromosome 11, position 32,413,578. Clinical significance in the table: Pathogenic.
Reference-table entries
WT1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:32413578
- Cytoband
- 11p13
- HGVS
- NM_024426.6(WT1):c.1387C>T (p.Arg463Ter)
- Allele change
- Nonsense_R446X
Associated conditions / phenotypes
Wilms tumor 1|Frasier syndrome|Drash syndrome|Wilms tumor 1|11p partial monosomy syndrome|Frasier syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.