Variant (rsID / SNP)
rs121907901
rs121907901 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WT1. Location: chromosome 11, position 32,414,250. Clinical significance in the table: Pathogenic.
Reference-table entries
WT1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:32414250
- Cytoband
- 11p13
- HGVS
- NM_024426.6(WT1):c.1316G>A (p.Arg439His)
- Allele change
- Missense_R422H
Associated conditions / phenotypes
Drash syndrome|Nephrotic syndrome, type 4|Drash syndrome|Wilms tumor 1|Frasier syndrome|Drash syndrome|Wilms tumor 1|11p partial monosomy syndrome|Frasier syndrome|Nephrotic syndrome, type 4
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.