Variant (rsID / SNP)
rs1423753702
rs1423753702 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WT1. Location: chromosome 11, position 32,417,947. Clinical significance in the table: Pathogenic.
Reference-table entries
WT1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:32417947
- Cytoband
- 11p13
- HGVS
- NM_024426.6(WT1):c.1120C>T (p.Arg374Ter)
- Allele change
- Nonsense_R357X
Associated conditions / phenotypes
Wilms tumor 1|Drash syndrome|Frasier syndrome|Wilms tumor 1|11p partial monosomy syndrome|Drash syndrome|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.