Variant (rsID / SNP)
rs147241955
rs147241955 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WT1. Location: chromosome 11, position 32,417,913. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
WT1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:32417913
- Cytoband
- 11p13
- HGVS
- NM_024426.6(WT1):c.1154G>A (p.Arg385Gln)
- Allele change
- Missense_R368Q
Associated conditions / phenotypes
Wilms tumor 1|11p partial monosomy syndrome|Drash syndrome|Frasier syndrome|Meacham syndrome|Wilms tumor 1|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.