Variant (rsID / SNP)
rs121907906
rs121907906 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WT1. Location: chromosome 11, position 32,414,263. Clinical significance in the table: Pathogenic.
Reference-table entries
WT1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:32414263
- Cytoband
- 11p13
- HGVS
- NM_024426.6(WT1):c.1303C>T (p.Arg435Ter)
- Allele change
- Nonsense_R418X
Associated conditions / phenotypes
Drash syndrome|Wilms tumor 1|Drash syndrome|Wilms tumor 1|11p partial monosomy syndrome|Frasier syndrome|8 conditions
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
