ZNF423

zinc finger protein 423

Summary

The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2012]

Known Variants809 total

rsidPosition (GRCh37)AllelesClassClinVar
rs159698812616:49,525,187C/T—likely benign
rs76310815316:49,525,189C/T—likely benign
rs15030255116:49,525,190T/G—likely benign
rs77459116816:49,525,193G/A—uncertain significance
rs144440907316:49,525,194C/T—uncertain significance
rs76239488216:49,525,195G/A—likely benign
rs215164044716:49,525,204C/T—uncertain significance
rs36964651916:49,525,208G/T—uncertain significance
rs159698825916:49,525,212G/A—pathogenic
rs196695041716:49,525,213G/A—likely benign
rs77561654016:49,525,218G/A—uncertain significance
rs215164050716:49,525,223G/A—likely benign
rs7851414216:49,525,224G/A—benign
rs117725868416:49,525,225C/T—likely benign
rs125547413316:49,525,226G/A—likely benign
rs77756937216:49,525,230A/C—likely benign
rs1244568316:49,525,238C/T—benign
rs992968816:49,543,376C/G——
rs1292586216:49,545,361A/G——
rs228731316:49,557,441C/A—benign
rs228731416:49,557,482T/C—benign
rs215170571716:49,557,516A/G—likely benign
rs78016779716:49,557,518C/T—likely benign
rs132152629816:49,557,519G/A—likely benign
rs196849015216:49,557,523G/A—likely benign
rs134009889416:49,557,529A/T—uncertain significance
rs77904957116:49,557,544G/A—likely benign
rs250670399216:49,557,556G/A—uncertain significance
rs155550385416:49,557,568G/A—likely benign
rs215170585416:49,557,572T/C—uncertain significance
rs123788933916:49,557,575G/A—uncertain significance
rs19968899716:49,557,582C/T—uncertain significance
rs77371465416:49,557,583G/A—likely benign
rs118962606916:49,557,603C/T—uncertain significance
rs55283926816:49,557,609C/T—uncertain significance
rs76788489216:49,557,610G/A—likely benign
rs76241054216:49,557,628C/T—likely benign
rs91147065516:49,557,645C/T—uncertain significance
rs135645848116:49,557,646G/A—likely benign
rs20012602516:49,557,658C/A—likely benign
rs90039527816:49,557,660G/A—likely benign
rs99784689416:49,557,664C/T—likely benign
rs75607437816:49,557,665G/A—likely benign
rs250670676116:49,557,669G/T—likely benign
rs5906557516:49,559,166C/T—benign
rs20154119616:49,559,268C/G—uncertain significance
rs156744364016:49,559,273C/T—uncertain significance
rs20032205716:49,559,287G/A—likely benign
rs250672649316:49,559,300G/A—uncertain significance
rs125232621416:49,559,303C/T—uncertain significance
rs76043640316:49,559,304C/T—uncertain significance
rs76621572016:49,559,305G/A—likely benign
rs75288547716:49,559,316C/T—uncertain significance
rs37171078016:49,559,317G/A—likely benign
rs250672735116:49,559,350G/A—likely benign
rs37671900616:49,559,353C/T—likely benign
rs196856595716:49,559,367T/C—uncertain significance
rs159705039716:49,559,377C/T—likely benign
rs196856669816:49,559,379G/A—likely benign
rs215170897216:49,559,384C/T—uncertain significance
rs133114861416:49,559,386C/T—likely benign
rs74629670416:49,559,388C/T—uncertain significance
rs13788095916:49,559,389G/A—likely benign
rs215170901016:49,559,410A/G—likely benign
rs20083808816:49,559,421G/A—benign
rs133970647216:49,559,423G/T—likely benign
rs1291828816:49,593,188G/Cintron variant—
rs74615716:49,593,393T/Cintron variant—
rs53289920916:49,600,810A/G——
rs650023416:49,613,746T/G——
rs1164274216:49,619,709G/Cintron variant—
rs1244873116:49,622,284C/Tintron variant—
rs5964294016:49,629,701G/T——
rs992204616:49,638,616A/T——
rs208050116:49,643,566G/C——
rs1694415816:49,652,779T/A——
rs992755616:49,655,194C/Tintron variant—
rs1694771616:49,660,026A/G—benign
rs76317496316:49,660,062G/T—likely benign
rs250684616416:49,660,071G/A—likely benign
rs197226000516:49,660,073T/C—likely benign
rs215186502416:49,660,074C/G—likely benign
rs14906829616:49,660,100G/A—likely benign
rs7619940116:49,660,121G/A—likely benign
rs77153080016:49,660,126C/T—uncertain significance
rs37004259016:49,660,127G/A—likely benign
rs37362028916:49,660,139G/A—likely benign
rs215186519516:49,660,174A/G—likely benign
rs215186520616:49,660,178C/T—uncertain significance
rs37771985716:49,660,183A/G—likely benign
rs137023602016:49,660,184T/C—likely benign
rs20160629116:49,669,557T/C—likely benign
rs123522410516:49,669,562T/C—likely benign
rs197266210316:49,669,567T/C—uncertain significance
rs197266243216:49,669,574G/T—likely benign
rs20033566816:49,669,583C/T—likely benign
rs143967776616:49,669,584G/A—uncertain significance
rs197266304016:49,669,592G/T—likely benign
rs75425760816:49,669,603G/A—uncertain significance
rs250696884416:49,669,605G/T—uncertain significance

Showing 100 of 809 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.