WT1

WT1 transcription factor

Summary

This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an essential role in the normal development of the urogenital system, and it is mutated in a small subset of patients with Wilms tumor. This gene exhibits complex tissue-specific and polymorphic imprinting pattern, with biallelic, and monoallelic expression from the maternal and paternal alleles in different tissues. Multiple transcript variants have been described. In several variants, there is evidence for the use of a non-AUG (CUG) translation initiation codon upstream of, and in-frame with the first AUG. Authors of PMID:7926762 also provide evidence that WT1 mRNA undergoes RNA editing in human and rat, and that this process is tissue-restricted and developmentally regulated. [provided by RefSeq, Mar 2015]

Known Variants1,179 total

rsidPosition (GRCh37)AllelesClassClinVar
rs19260896711:32,387,787A/G—benign
rs53439687611:32,409,365A/T—likely benign
rs88604821011:32,409,379A/G—uncertain significance
rs503032911:32,409,395T/C—likely benign
rs77177023011:32,409,437A/C—uncertain significance
rs503032811:32,409,472T/A—likely benign
rs503032711:32,409,506G/A—likely benign
rs93671700411:32,409,538A/C—uncertain significance
rs88604821111:32,409,546C/A—uncertain significance
rs503032511:32,409,701C/T—likely benign
rs503032411:32,409,707C/G—likely benign
rs503032311:32,409,740A/T—likely benign
rs88604821311:32,409,763G/T—uncertain significance
rs503032211:32,409,769T/C—likely benign
rs104234711:32,409,784C/G—benign
rs88604821411:32,409,819G/T—uncertain significance
rs88604821511:32,409,836T/G—uncertain significance
rs88604821611:32,409,863C/A—uncertain significance
rs88604821711:32,409,897G/T—uncertain significance
rs88604821811:32,409,919C/A—uncertain significance
rs37430674911:32,409,938T/C—uncertain significance
rs185172308511:32,409,975A/G—uncertain significance
rs88604821911:32,409,990T/G—uncertain significance
rs88604822011:32,409,993G/A—uncertain significance
rs503032011:32,410,002T/C3 prime UTR variantbenign
rs14272649911:32,410,062C/T—likely benign
rs86854616511:32,410,070G/A—conflicting classifications of pathogenicity
rs57560226211:32,410,091G/A—uncertain significance
rs88604822111:32,410,144G/T—uncertain significance
rs88604822211:32,410,211C/A—uncertain significance
rs88604822311:32,410,238G/T—uncertain significance
rs88604822411:32,410,250C/A—uncertain significance
rs503031811:32,410,259C/T—likely benign
rs88604822511:32,410,335C/A—uncertain significance
rs503031711:32,410,337C/G3 prime UTR variantbenign
rs88604822611:32,410,365C/T—uncertain significance
rs503031611:32,410,380T/C—benign
rs74621888011:32,410,445C/G—uncertain significance
rs11135188211:32,410,466C/T—likely benign
rs75747429911:32,410,494G/A—uncertain significance
rs185173855111:32,410,504T/C—uncertain significance
rs503031511:32,410,516T/C3 prime UTR variantbenign
rs223459411:32,410,588C/A—likely benign
rs7746266211:32,410,592G/A—conflicting classifications of pathogenicity
rs76574392811:32,410,599A/G—uncertain significance
rs124025785411:32,410,601C/T—uncertain significance
rs75879804811:32,410,602C/T—uncertain significance
rs185174222911:32,410,604T/C—uncertain significance
rs14885616011:32,410,605C/T—conflicting classifications of pathogenicity
rs20211828411:32,410,610C/T—likely benign
rs74926684111:32,410,611G/A—conflicting classifications of pathogenicity
rs185174266811:32,410,612C/G—uncertain significance
rs77422890711:32,410,614A/G—uncertain significance
rs213289729811:32,410,616C/T—likely benign
rs86683769211:32,410,618G/A—uncertain significance
rs26760284811:32,410,619G/A—likely benign
rs74566307011:32,410,622T/C—likely benign
rs213289754711:32,410,628C/T—uncertain significance
rs155493853111:32,410,632T/A—uncertain significance
rs136314468811:32,410,635C/G—uncertain significance
rs213289781811:32,410,639G/A—pathogenic
rs185174382711:32,410,644A/T—uncertain significance
rs155493853411:32,410,645T/C—uncertain significance
rs213289804111:32,410,647T/A—uncertain significance
rs145162986211:32,410,649G/T—uncertain significance
rs213289810111:32,410,650T/C—uncertain significance
rs213289817811:32,410,655G/C—likely benign
rs185174430311:32,410,656C/A—uncertain significance
rs185174442111:32,410,657G/A—uncertain significance
rs133862988611:32,410,658G/T—likely benign
rs139991088911:32,410,660C/G—uncertain significance
rs156496763811:32,410,663A/C—uncertain significance
rs213289864011:32,410,668T/C—conflicting classifications of pathogenicity
rs213289866711:32,410,669C/G—likely pathogenic
rs213289886111:32,410,673C/G—likely benign
rs159032622611:32,410,674C/T—pathogenic
rs213289893511:32,410,675G/A—likely pathogenic
rs213289899711:32,410,677G/C—uncertain significance
rs76037013211:32,410,686T/C—uncertain significance
rs213289922611:32,410,688C/A—uncertain significance
rs133493011711:32,410,694A/G—likely benign
rs76355183711:32,410,695C/T—conflicting classifications of pathogenicity
rs77625667611:32,410,696T/G—uncertain significance
rs213289941911:32,410,697T/C—likely benign
rs76136032411:32,410,699G/A—uncertain significance
rs13989327411:32,410,704C/T—uncertain significance
rs131554991811:32,410,705G/A—uncertain significance
rs213289965111:32,410,706A/G—likely benign
rs159032632911:32,410,709G/A—likely benign
rs26760284911:32,410,710C/T—conflicting classifications of pathogenicity
rs122037205511:32,410,715G/T—likely benign
rs213290004711:32,410,724A/G—likely benign
rs156496770611:32,410,725C/T—likely pathogenic
rs90433051111:32,410,728G/T—uncertain significance
rs213290014611:32,410,731G/C—uncertain significance
rs139219136511:32,410,732A/G—conflicting classifications of pathogenicity
rs159032638511:32,410,734A/G—likely benign
rs18574471911:32,410,735C/T—likely benign
rs76844976711:32,410,738T/A—conflicting classifications of pathogenicity
rs249470617011:32,410,743A/C—likely benign

Showing 100 of 1,179 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.