TCF20

transcription factor 20

Summary

This gene encodes a transcription factor that recognizes the platelet-derived growth factor-responsive element in the matrix metalloproteinase 3 promoter. The encoded protein is thought to be a transcriptional coactivator, enhancing the activity of transcription factors such as JUN and SP1. Mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

Known Variants724 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14145793822:42,564,607C/T—uncertain significance
rs14222225422:42,564,657C/A—likely benign
rs76337454222:42,564,666C/T—likely benign
rs14637432722:42,564,685T/A—likely benign
rs37059881222:42,564,698C/T—likely benign
rs75816473722:42,564,699G/C—likely benign
rs53950005822:42,564,700C/T—conflicting classifications of pathogenicity
rs20186615522:42,564,701G/A—likely benign
rs251803237522:42,564,706T/C—uncertain significance
rs74786689522:42,564,716G/C—likely benign
rs14434153722:42,564,717G/A—uncertain significance
rs11509500422:42,564,718G/T—likely benign
rs37136084122:42,564,719G/C—likely benign
rs76622916822:42,564,724G/C—conflicting classifications of pathogenicity
rs13974350922:42,564,732G/A—benign
rs251803265422:42,564,735A/G—uncertain significance
rs77236139622:42,564,749C/T—likely benign
rs18328216422:42,564,750G/A—likely benign
rs11742892722:42,565,835T/C—benign
rs251803728222:42,565,837G/A—likely benign
rs76225557322:42,565,885C/G—likely benign
rs37111794322:42,565,895C/A—uncertain significance
rs251803770422:42,565,899C/G—uncertain significance
rs76056258022:42,565,916G/T—uncertain significance
rs75746840422:42,575,596G/T—likely benign
rs77890641222:42,575,631C/T—likely benign
rs18577773022:42,575,632G/A—likely benign
rs156911070022:42,575,639G/A—pathogenic
rs75040887022:42,575,644C/T—uncertain significance
rs251807951122:42,575,645G/A—pathogenic
rs116841890422:42,575,652G/A—likely benign
rs123677582022:42,575,662T/C—uncertain significance
rs18818938322:42,575,682G/A—benign
rs14569932522:42,575,687C/T—likely benign
rs251807985622:42,575,688C/G—uncertain significance
rs52791279622:42,575,689T/G—conflicting classifications of pathogenicity
rs214709466222:42,575,698T/C—uncertain significance
rs18102010722:42,575,719G/A—benign
rs814113422:42,584,071A/Gintron variant—
rs192092467822:42,605,640A/C—likely benign
rs124224187522:42,605,641G/T—likely benign
rs20031931022:42,605,644T/C—likely benign
rs54037386522:42,605,647T/A—likely benign
rs76322237422:42,605,678C/T—likely benign
rs77435172822:42,605,681T/C—likely benign
rs78130772722:42,605,694T/C—uncertain significance
rs118252912122:42,605,713G/C—uncertain significance
rs76091812222:42,605,719T/G—likely benign
rs14147663522:42,605,724T/C—conflicting classifications of pathogenicity
rs75003898222:42,605,726G/A—likely benign
rs214719359822:42,605,729C/T—pathogenic
rs75805498822:42,605,737T/C—uncertain significance
rs251819718522:42,605,744C/T—likely benign
rs214719369222:42,605,753C/T—pathogenic
rs75106418222:42,605,757A/C—likely benign
rs78095826922:42,605,763T/C—conflicting classifications of pathogenicity
rs74816364422:42,605,764T/G—uncertain significance
rs156914237622:42,605,789T/G—uncertain significance
rs214719388222:42,605,791G/T—conflicting classifications of pathogenicity
rs77457985222:42,605,807G/A—likely benign
rs14529277922:42,605,821T/C—likely benign
rs37026969422:42,605,831G/A—likely benign
rs192092646322:42,605,846C/T—likely benign
rs76710940522:42,605,855C/T—likely benign
rs192092671022:42,605,861A/C—uncertain significance
rs20155797322:42,605,862C/T—benign
rs53120252922:42,605,866T/C—uncertain significance
rs192092685622:42,605,867G/A—uncertain significance
rs54939871422:42,605,870C/T—benign
rs14361735922:42,605,878C/T—likely benign
rs124509574422:42,605,900C/T—likely benign
rs37560016622:42,605,905A/C—likely benign
rs251819888022:42,605,908G/C—uncertain significance
rs251819889522:42,605,910G/C—uncertain significance
rs76574180722:42,605,917G/C—uncertain significance
rs251819902622:42,605,920C/G—likely benign
rs116222618822:42,605,925C/T—uncertain significance
rs192092772522:42,605,928C/T—uncertain significance
rs3482382522:42,605,936C/T—likely benign
rs37321495422:42,605,937G/A—conflicting classifications of pathogenicity
rs75560510422:42,605,940C/T—benign
rs192092806522:42,605,952T/C—uncertain significance
rs74566526122:42,605,968C/T—uncertain significance
rs37691515322:42,605,984C/A—uncertain significance
rs76865526422:42,605,989T/C—uncertain significance
rs214719507222:42,605,991T/G—uncertain significance
rs15030431022:42,606,026C/T—likely benign
rs77085372222:42,606,027G/A—uncertain significance
rs139072326422:42,606,028T/C—likely benign
rs20199264822:42,606,035G/A—benign
rs98744924322:42,606,049T/C—uncertain significance
rs76517230022:42,606,055G/A—conflicting classifications of pathogenicity
rs13788701122:42,606,078A/G—likely benign
rs214719588922:42,606,099G/A—uncertain significance
rs76739605822:42,606,111G/A—likely benign
rs74962935022:42,606,113G/T—likely benign
rs192093043222:42,606,125A/C—pathogenic
rs214719616322:42,606,136G/A—uncertain significance
rs76511916522:42,606,168C/T—uncertain significance
rs37047646622:42,606,169G/A—uncertain significance

Showing 100 of 724 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.