Variant (rsID / SNP)
rs121907907
rs121907907 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WT1. Location: chromosome 11, position 32,414,228. Clinical significance in the table: Pathogenic.
Reference-table entries
WT1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:32414228
- Cytoband
- 11p13
- HGVS
- NM_024426.6(WT1):c.1338C>G (p.His446Gln)
- Allele change
- Missense_H429Q
Associated conditions / phenotypes
Drash syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.