Variant (rsID / SNP)
rs121907900
rs121907900 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WT1. Location: chromosome 11, position 32,413,566. Clinical significance in the table: Pathogenic.
Reference-table entries
WT1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:32413566
- Cytoband
- 11p13
- HGVS
- NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)
- Allele change
- Missense_R450W
Associated conditions / phenotypes
Drash syndrome|Nephrotic syndrome, type 4|Meacham syndrome|Drash syndrome|Wilms tumor 1|11p partial monosomy syndrome|Frasier syndrome|Steroid-resistant nephrotic syndrome|Nephrotic range proteinuria|Wilms tumor 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
