PNKP

polynucleotide kinase 3'-phosphatase

Summary

This locus represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein encoded by this locus catalyzes 5' phosphorylation and 3' dephosphorylation of nucleic acids. Mutations at this locus have been associated with microcephaly, seizures, and developmental delay.[provided by RefSeq, Sep 2010]

Known Variants823 total

rsidPosition (GRCh37)AllelesClassClinVar
rs373920919:50,364,423T/C—likely benign
rs20206119619:50,364,462C/T—uncertain significance
rs88605458219:50,364,482T/G—uncertain significance
rs20187247719:50,364,484T/G—benign
rs37483647819:50,364,488G/A—likely benign
rs105033219:50,364,490G/A—conflicting classifications of pathogenicity
rs75632062019:50,364,500G/C—likely benign
rs212231508719:50,364,505T/C—uncertain significance
rs77816591319:50,364,506C/T—likely benign
rs128968280319:50,364,510C/T—uncertain significance
rs136145323719:50,364,511C/T—likely benign
rs88604312819:50,364,512T/C—uncertain significance
rs77082306319:50,364,513C/T—uncertain significance
rs14218037419:50,364,514G/C—likely benign
rs74580105519:50,364,515G/C—uncertain significance
rs54114395819:50,364,517G/A—likely benign
rs251463082219:50,364,518A/T—uncertain significance
rs97972725319:50,364,519A/G—uncertain significance
rs77191344619:50,364,520C/T—likely benign
rs207475243919:50,364,521T/A—uncertain significance
rs77499563519:50,364,522G/A—conflicting classifications of pathogenicity
rs74557962919:50,364,523G/C—uncertain significance
rs76013189219:50,364,526G/C—likely pathogenic
rs77624333319:50,364,532C/T—likely benign
rs76149187219:50,364,533C/T—uncertain significance
rs11221783819:50,364,534G/A—uncertain significance
rs76671763319:50,364,535C/T—likely benign
rs75188421719:50,364,536C/G—uncertain significance
rs207475293119:50,364,537C/G—uncertain significance
rs142361537119:50,364,540G/A—likely benign
rs14408671319:50,364,544C/A—likely benign
rs75277610419:50,364,547C/G—uncertain significance
rs14647895819:50,364,549C/T—conflicting classifications of pathogenicity
rs212231565119:50,364,550C/T—likely benign
rs212231568219:50,364,553C/G—uncertain significance
rs77804313919:50,364,554C/T—conflicting classifications of pathogenicity
rs207475334119:50,364,555A/G—uncertain significance
rs36974887319:50,364,556T/C—likely benign
rs20166186419:50,364,558G/A—likely benign
rs207475343819:50,364,559C/G—likely benign
rs74565140519:50,364,560C/T—uncertain significance
rs14866916019:50,364,561G/C—uncertain significance
rs77619016819:50,364,566G/A—uncertain significance
rs129339328719:50,364,568G/C—uncertain significance
rs138105116419:50,364,571C/T—likely benign
rs207475378919:50,364,572T/C—uncertain significance
rs14219928019:50,364,574C/T—likely benign
rs77473975619:50,364,575A/T—uncertain significance
rs58778111419:50,364,576G/A—benign
rs36839084019:50,364,577G/C—uncertain significance
rs75311688319:50,364,579T/G—uncertain significance
rs11619244219:50,364,580G/A—conflicting classifications of pathogenicity
rs116568925019:50,364,588A/G—uncertain significance
rs6027987419:50,364,589G/T—conflicting classifications of pathogenicity
rs108530766119:50,364,590C/A—uncertain significance
rs75397636419:50,364,591C/A—uncertain significance
rs148857782419:50,364,594C/T—uncertain significance
rs77930609719:50,364,600G/A—likely benign
rs212231617719:50,364,602G/A—uncertain significance
rs72750410019:50,364,603T/C—uncertain significance
rs74691607019:50,364,606G/A—uncertain significance
rs91381527519:50,364,607G/A—likely benign
rs144009581919:50,364,612C/T—uncertain significance
rs74768960919:50,364,622C/G—uncertain significance
rs103040407819:50,364,627C/A—conflicting classifications of pathogenicity
rs156865801919:50,364,631G/A—likely benign
rs251463138619:50,364,634G/A—likely benign
rs76270999519:50,364,635G/A—likely benign
rs77232253319:50,364,641G/T—likely benign
rs146879259619:50,364,690C/T—likely benign
rs251463165919:50,364,692A/G—likely benign
rs74888254319:50,364,693T/C—likely benign
rs77063454119:50,364,694C/T—likely benign
rs117837502819:50,364,695C/A—likely benign
rs207475648719:50,364,696C/T—likely benign
rs77564644419:50,364,699A/G—likely benign
rs160041454919:50,364,704A/T—pathogenic
rs37621314619:50,364,711G/C—uncertain significance
rs14694186619:50,364,713C/T—uncertain significance
rs207475686319:50,364,714A/C—pathogenic
rs88735181619:50,364,718A/G—uncertain significance
rs126416333019:50,364,719T/C—uncertain significance
rs373920619:50,364,721A/C—likely benign
rs79605285719:50,364,722C/T—uncertain significance
rs76665553919:50,364,724A/G—uncertain significance
rs79605285619:50,364,725T/C—uncertain significance
rs207475722219:50,364,726G/A—likely benign
rs160041462919:50,364,730G/A—uncertain significance
rs101733039619:50,364,732C/T—conflicting classifications of pathogenicity
rs57593595519:50,364,734C/A—uncertain significance
rs20001411119:50,364,736G/A—uncertain significance
rs140619002119:50,364,738G/A—likely benign
rs37001766619:50,364,741A/G—conflicting classifications of pathogenicity
rs14203228119:50,364,742T/A—uncertain significance
rs123156006219:50,364,745G/A—uncertain significance
rs77864735319:50,364,752C/T—uncertain significance
rs37454716419:50,364,753C/T—likely benign
rs76910963119:50,364,754G/T—uncertain significance
rs14588674919:50,364,757A/G—uncertain significance
rs156865826919:50,364,759C/T—likely benign

Showing 100 of 823 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.