ZAP70

zeta chain of T cell receptor associated protein kinase 70

Summary

This gene encodes an enzyme belonging to the protein tyrosine kinase family, and it plays a role in T-cell development and lymphocyte activation. This enzyme, which is phosphorylated on tyrosine residues upon T-cell antigen receptor (TCR) stimulation, functions in the initial step of TCR-mediated signal transduction in combination with the Src family kinases, Lck and Fyn. This enzyme is also essential for thymocyte development. Mutations in this gene cause selective T-cell defect, a severe combined immunodeficiency disease characterized by a selective absence of CD8-positive T-cells. Two transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants420 total

rsidPosition (GRCh37)AllelesClassClinVar
rs2018242702:98,330,021G/A—uncertain significance
rs22766452:98,330,052C/A—benign
rs564089112:98,330,061C/A—likely benign
rs2016160952:98,330,105C/T—uncertain significance
rs22766442:98,330,218A/G—benign
rs2019136642:98,330,365G/A—likely benign
rs1997577962:98,330,388T/A—benign
rs2004168372:98,330,398T/G—uncertain significance
rs556379392:98,330,420T/C—benign
rs67125172:98,340,364C/A—benign
rs15593197522:98,340,502G/T—uncertain significance
rs10091147252:98,340,506G/C—uncertain significance
rs16772679572:98,340,515G/A—uncertain significance
rs7653865402:98,340,516C/T—uncertain significance
rs2022168582:98,340,520C/G—uncertain significance
rs7469091862:98,340,524C/G—uncertain significance
rs13406071262:98,340,536G/C—conflicting classifications of pathogenicity
rs21046610002:98,340,545T/C—uncertain significance
rs12966293792:98,340,547G/A—likely benign
rs12463200512:98,340,549G/T—uncertain significance
rs3737081422:98,340,579C/A—uncertain significance
rs16772724292:98,340,580G/A—likely benign
rs7693930962:98,340,589G/T—likely benign
rs561271202:98,340,604G/A—benign
rs15732618202:98,340,608C/G—pathogenic
rs8979722952:98,340,616C/A—pathogenic
rs24826774142:98,340,628G/C—likely benign
rs14836681482:98,340,632G/C—uncertain significance
rs7539303522:98,340,651T/C—uncertain significance
rs1384472062:98,340,655C/T—conflicting classifications of pathogenicity
rs7790496352:98,340,661G/A—likely benign
rs21046615612:98,340,668C/T—uncertain significance
rs7469601202:98,340,676T/C—likely benign
rs24826783122:98,340,678C/T—uncertain significance
rs16772791732:98,340,679C/T—likely benign
rs12535015172:98,340,684A/G—uncertain significance
rs7707054072:98,340,691G/C—uncertain significance
rs2007011372:98,340,696A/G—uncertain significance
rs7454206132:98,340,698G/T—uncertain significance
rs1386283022:98,340,701A/T—uncertain significance
rs14670428512:98,340,702C/G—uncertain significance
rs1994996292:98,340,715C/T—likely benign
rs21046618152:98,340,726C/T—uncertain significance
rs1139941722:98,340,738C/Amissense variantuncertain significance
rs2006796712:98,340,760C/G—pathogenic
rs16772847872:98,340,763G/A—likely benign
rs7771715512:98,340,766C/T—likely benign
rs24826800112:98,340,775C/T—likely benign
rs12509685382:98,340,778G/A—likely benign
rs15732623982:98,340,782C/T—pathogenic
rs15732624352:98,340,801C/A—uncertain significance
rs14149585842:98,340,803T/G—uncertain significance
rs7514206232:98,340,809C/A—likely benign
rs5429732702:98,340,814G/A—likely benign
rs7810337852:98,340,816C/G—uncertain significance
rs13701947132:98,340,817G/T—likely benign
rs7556028282:98,340,823C/G—likely benign
rs13536820442:98,340,827C/T—uncertain significance
rs12639388082:98,340,828C/T—uncertain significance
rs10211052262:98,340,829G/C—likely benign
rs13299509382:98,340,835G/A—likely benign
rs10087505522:98,340,841C/T—likely benign
rs14831912912:98,340,851C/T—likely benign
rs7684927402:98,340,859C/T—likely benign
rs21046624182:98,340,865G/C—uncertain significance
rs2015513732:98,340,868G/A—likely benign
rs2005143842:98,340,876A/C—uncertain significance
rs13101567742:98,340,879T/C—uncertain significance
rs16772933322:98,340,905A/T—uncertain significance
rs7653135002:98,340,907A/G—uncertain significance
rs12437830402:98,340,921C/T—likely benign
rs130067042:98,341,120A/G—likely benign
rs22899192:98,341,195C/T—benign
rs2021934492:98,341,552T/C—uncertain significance
rs24826894082:98,341,558G/A—uncertain significance
rs21046650802:98,341,563C/T—likely benign
rs16773315392:98,341,574C/G—uncertain significance
rs7580024552:98,341,575C/T—likely benign
rs13393356672:98,341,587G/A—likely benign
rs13635668362:98,341,589C/T—uncertain significance
rs3684468822:98,341,592C/T—uncertain significance
rs12313919342:98,341,596G/C—uncertain significance
rs617353922:98,341,599G/A—benign
rs1459559072:98,341,616C/T—benign
rs12661712752:98,341,619C/G—uncertain significance
rs2005527252:98,341,620G/A—likely benign
rs564046682:98,341,626C/G—uncertain significance
rs12635331572:98,341,627G/T—pathogenic
rs11977803522:98,341,631G/A—uncertain significance
rs11562512762:98,341,656G/C—likely benign
rs13871210682:98,341,658C/T—uncertain significance
rs1996315172:98,341,664A/G—likely benign
rs8860564852:98,341,668G/A—uncertain significance
rs7646577002:98,341,672G/A—uncertain significance
rs7523182742:98,341,675C/T—uncertain significance
rs21046654902:98,341,680A/G—likely benign
rs1158461382:98,341,683T/C—benign
rs7803381752:98,341,689T/C—likely benign
rs7498018852:98,341,694C/G—uncertain significance
rs3721033252:98,341,695G/A—likely benign

Showing 100 of 420 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.