ALDOA

aldolase, fructose-bisphosphate A

Summary

This gene encodes a member of the class I fructose-bisphosphate aldolase protein family. The encoded protein is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Mutations in this gene have been associated with Glycogen Storage Disease XII, an autosomal recessive disorder associated with hemolytic anemia. Disruption of this gene also plays a role in the progression of multiple types of cancers. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Sep 2017]

Known Variants245 total

rsidPosition (GRCh37)AllelesClassClinVar
rs4128085416:30,064,471T/C—likely benign
rs105752139316:30,064,523C/T—likely benign
rs14602546716:30,064,766C/T—likely benign
rs77444985916:30,064,790G/A—likely benign
rs139327265116:30,064,813C/T—likely benign
rs55473060716:30,066,101C/G—likely benign
rs56661227816:30,066,118C/T—likely benign
rs91490580416:30,066,266G/C—likely benign
rs4128085816:30,066,267G/A—benign
rs101301237316:30,075,740C/T—likely benign
rs102673715916:30,075,760T/G—likely benign
rs105752341516:30,075,837A/C—likely benign
rs78037804716:30,078,248C/T—likely benign
rs76980017316:30,078,282T/C—uncertain significance
rs76446240816:30,078,317C/G—uncertain significance
rs7664262016:30,078,447G/A—likely benign
rs978378316:30,078,492C/G—benign
rs207214753616:30,078,587A/G—likely benign
rs15000372016:30,078,594G/A—uncertain significance
rs116374955916:30,078,597C/T—likely benign
rs18889820016:30,078,602C/T—likely benign
rs76028767616:30,078,605G/A—likely benign
rs90527360616:30,078,615A/G—uncertain significance
rs92938900116:30,078,630A/G—uncertain significance
rs77340274316:30,078,632C/T—uncertain significance
rs76353294416:30,078,633G/A—uncertain significance
rs76673435016:30,078,636C/T—uncertain significance
rs1155311016:30,078,638C/T—likely benign
rs14558272416:30,078,639C/T—uncertain significance
rs37268419316:30,078,640G/A—uncertain significance
rs54535047016:30,078,652C/T—uncertain significance
rs215101569416:30,078,686T/G—uncertain significance
rs20027898416:30,078,691C/T—conflicting classifications of pathogenicity
rs77493947516:30,078,692G/A—uncertain significance
rs7498300016:30,078,716G/A—likely benign
rs129755372716:30,078,756A/G—likely benign
rs94245053916:30,078,760G/C—likely benign
rs118207881616:30,078,762C/G—uncertain significance
rs75276498216:30,078,766C/T—conflicting classifications of pathogenicity
rs93497112516:30,078,784G/A—likely benign
rs75704792916:30,078,785C/T—uncertain significance
rs54914670916:30,078,786G/A—uncertain significance
rs147983847016:30,078,795C/T—uncertain significance
rs254360263916:30,078,798T/C—uncertain significance
rs75828097316:30,078,805C/T—likely benign
rs137036046616:30,078,806G/A—uncertain significance
rs77955605216:30,078,808G/A—conflicting classifications of pathogenicity
rs74645332116:30,078,812A/G—uncertain significance
rs134330493816:30,078,813C/T—uncertain significance
rs76815333416:30,078,814C/T—likely benign
rs19985200216:30,078,818G/A—uncertain significance
rs143567404016:30,078,819A/G—uncertain significance
rs20146860916:30,078,860G/C—uncertain significance
rs75258749816:30,078,864G/A—uncertain significance
rs14697641416:30,078,871C/G—uncertain significance
rs74778839416:30,078,878A/C—uncertain significance
rs119240426516:30,078,892C/T—likely benign
rs215101613316:30,078,896T/C—uncertain significance
rs207216519216:30,078,904G/A—likely benign
rs7676722316:30,078,907A/G—likely benign
rs87908666416:30,078,919G/A—likely benign
rs138579202516:30,078,921C/T—uncertain significance
rs77255089316:30,078,922G/A—likely benign
rs77618731216:30,078,932C/T—uncertain significance
rs74748292516:30,078,933G/A—uncertain significance
rs133374905216:30,078,943C/T—likely benign
rs207216917116:30,078,958C/T—likely benign
rs254360414316:30,078,962G/T—uncertain significance
rs76279748216:30,078,965G/A—uncertain significance
rs14223160316:30,078,967T/A—likely benign
rs207216982516:30,078,968G/A—uncertain significance
rs57038524616:30,078,971G/T—uncertain significance
rs254360439116:30,078,991A/C—likely benign
rs76397440016:30,078,992G/A—likely benign
rs74892588116:30,078,998C/T—likely benign
rs7820929216:30,078,999C/G—likely benign
rs78052236016:30,079,000G/A—likely benign
rs207217171816:30,079,001G/A—likely benign
rs7572173516:30,079,724T/C—benign
rs11444516816:30,079,852A/T—benign
rs77779103216:30,079,948G/A—likely benign
rs104590483416:30,079,953C/T—likely benign
rs105752325916:30,079,958C/T—likely benign
rs14581146916:30,079,978C/T—likely benign
rs14819339816:30,079,979G/A—uncertain significance
rs77174008216:30,079,985C/T—uncertain significance
rs75333691216:30,079,995G/A—uncertain significance
rs77570503816:30,080,000A/G—uncertain significance
rs121263121616:30,080,004G/A—uncertain significance
rs78138044816:30,080,005C/T—likely benign
rs95060572316:30,080,029C/T—likely benign
rs3442919516:30,080,063G/A—benign
rs7812428216:30,080,123C/A—benign
rs11309036116:30,080,136T/C—uncertain significance
rs12190953316:30,080,145A/Gmissense variantpathogenic
rs145611871816:30,080,149G/C—likely benign
rs1155311316:30,080,159C/T—uncertain significance
rs77881463316:30,080,160G/A—uncertain significance
rs128384568416:30,080,169A/T—uncertain significance
rs75849117016:30,080,173C/T—likely benign

Showing 100 of 245 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.