CFAP410

cilia and flagella associated protein 410

Summary

Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]

Known Variants324 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11552905221:45,749,946C/T—benign
rs930609821:45,750,048C/T—benign
rs11163157321:45,750,051G/A—benign
rs139801127021:45,750,077G/A—likely benign
rs76617748321:45,750,086C/T—uncertain significance
rs122471553421:45,750,087G/A—likely benign
rs14119531521:45,750,089C/T—conflicting classifications of pathogenicity
rs37764084021:45,750,090G/A—likely benign
rs76505859021:45,750,091T/C—uncertain significance
rs148570055221:45,750,100A/C—uncertain significance
rs126642429021:45,750,102C/T—likely benign
rs75749431921:45,750,105T/C—likely benign
rs204761765221:45,750,108C/T—likely benign
rs18584226621:45,750,112C/A—uncertain significance
rs117542823421:45,750,113G/A—uncertain significance
rs37454903721:45,750,123C/T—likely benign
rs89555792921:45,750,127C/T—uncertain significance
rs78041231921:45,750,128G/A—uncertain significance
rs214605354921:45,750,135C/A—likely benign
rs77148617321:45,750,138A/C—likely benign
rs93015368221:45,750,139G/C—uncertain significance
rs77271883521:45,750,141C/G—uncertain significance
rs214605362121:45,750,142T/G—uncertain significance
rs1155206621:45,750,145C/T—benign
rs77052737721:45,750,149C/T—uncertain significance
rs55268603121:45,750,150G/A—likely benign
rs76528161021:45,750,152C/T—uncertain significance
rs36774855221:45,750,153C/T—likely benign
rs214605371621:45,750,154T/C—uncertain significance
rs251803940421:45,750,156C/T—likely benign
rs76288427021:45,750,162C/T—likely benign
rs1155206821:45,750,168A/G—benign
rs137519869921:45,750,171C/T—likely benign
rs14855325221:45,750,178C/T—uncertain significance
rs75758646221:45,750,179G/A—uncertain significance
rs111416789221:45,750,181A/Gmissense variantpathogenic
rs204762031821:45,750,182G/A—likely benign
rs115970728721:45,750,183C/G—likely benign
rs251803965021:45,750,192G/A—likely benign
rs214605399121:45,750,197C/G—uncertain significance
rs214605400321:45,750,198A/G—likely benign
rs214605402721:45,750,202A/G—uncertain significance
rs134085008721:45,750,203G/A—likely benign
rs55714858521:45,750,204G/A—likely benign
rs75642941021:45,750,206C/T—uncertain significance
rs37029513721:45,750,207G/A—likely benign
rs160207151421:45,750,210C/G—pathogenic
rs160207152421:45,750,211T/C—pathogenic
rs214605413321:45,750,216G/A—likely benign
rs125332979321:45,750,221G/A—likely benign
rs75812173121:45,750,223G/C—likely benign
rs74977054021:45,750,227C/T—likely benign
rs75546223421:45,750,228G/A—likely benign
rs113169080021:45,750,232T/A—pathogenic
rs37467479021:45,750,242C/T—likely benign
rs1155206721:45,750,248A/G—benign
rs207057321:45,750,346C/A—benign
rs77229059921:45,750,356G/A—uncertain significance
rs53835710821:45,750,389C/T—uncertain significance
rs74991143321:45,750,430A/C—likely benign
rs37627038221:45,750,444C/T—likely benign
rs37392919921:45,750,496G/A—likely benign
rs121643491521:45,750,512C/T—uncertain significance
rs53447871821:45,750,541C/T—likely benign
rs92143401421:45,750,556C/T—likely benign
rs75002008721:45,750,608A/G—uncertain significance
rs74611424821:45,750,684C/T—uncertain significance
rs77587447421:45,750,687C/A—likely benign
rs76328380321:45,750,688T/G—likely benign
rs54471845521:45,750,691C/T—likely benign
rs147951624621:45,750,692G/A—likely benign
rs77491792421:45,750,696C/T—likely benign
rs20074894521:45,750,697G/A—benign
rs127616708321:45,750,698C/G—likely benign
rs214605722821:45,750,704A/G—pathogenic
rs6200036021:45,750,713C/T—benign
rs77736091821:45,750,724C/T—likely benign
rs14802392421:45,750,725G/A—benign
rs75709726521:45,750,727G/A—likely benign
rs214605748921:45,750,731T/A—uncertain significance
rs92348003421:45,750,732C/T—uncertain significance
rs77005121121:45,750,745G/C—likely benign
rs251804331521:45,750,746G/C—uncertain significance
rs14174401721:45,750,759C/T—uncertain significance
rs14715977021:45,750,760C/T—benign
rs77242610721:45,750,761C/T—uncertain significance
rs75807862621:45,750,762G/A—uncertain significance
rs74685628721:45,750,769C/T—likely benign
rs11243647821:45,750,770G/A—uncertain significance
rs75239903021:45,750,779C/A—conflicting classifications of pathogenicity
rs36903946621:45,750,782C/T—uncertain significance
rs37299248621:45,750,783G/A—uncertain significance
rs145979605921:45,750,786C/T—uncertain significance
rs75127449321:45,750,787A/G—likely benign
rs75726222021:45,750,795C/T—uncertain significance
rs13875553221:45,750,796G/A—likely benign
rs75056194721:45,750,798C/T—uncertain significance
rs134182473421:45,750,799G/A—likely benign
rs214605797121:45,750,808A/C—likely benign
rs124675044521:45,750,819G/A—likely benign

Showing 100 of 324 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.