LDHA

lactate dehydrogenase A

Summary

This gene encodes the A subunit of lactate dehydrogenase enzyme which catalyzes the reversible conversion of pyruvate to lactate with the concomitant oxidation of NADH to NAD in anaerobic glycolysis. The protein is found predominantly in skeletal muscle and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2023]

Known Variants176 total

rsidPosition (GRCh37)AllelesClassClinVar
rs475765011:18,415,815C/T—benign
rs20091642711:18,416,144T/C—uncertain significance
rs1227815311:18,416,313A/C—benign
rs475765111:18,417,583G/A—benign
rs18310583211:18,417,726A/T—likely benign
rs11681748211:18,417,758G/T—likely benign
rs20026788811:18,418,356C/G—likely benign
rs37533926311:18,418,396A/G—uncertain significance
rs20025195711:18,418,397C/T—uncertain significance
rs76844450211:18,418,419T/C—uncertain significance
rs37122114611:18,418,428A/C—likely benign
rs126461984711:18,418,436A/G—uncertain significance
rs19958592811:18,418,441A/G—uncertain significance
rs53748738111:18,418,442C/T—uncertain significance
rs1155387011:18,418,446C/T—conflicting classifications of pathogenicity
rs77601668411:18,418,472T/C—uncertain significance
rs75659951111:18,418,506C/G—uncertain significance
rs75391738411:18,418,510A/G—uncertain significance
rs14876106611:18,418,515G/A—uncertain significance
rs77902314911:18,418,517T/C—likely pathogenic
rs19990153911:18,418,532C/T—likely benign
rs14968675811:18,418,685A/G—likely benign
rs427418611:18,418,719C/T—benign
rs8033918711:18,418,728G/A—likely benign
rs183042511:18,419,432T/A——
rs289652611:18,419,806A/Gintron variant—
rs712124411:18,420,805T/A—benign
rs1083292811:18,420,876T/G—benign
rs76459710711:18,420,964T/C—likely benign
rs20146092411:18,420,988A/T—uncertain significance
rs213402152711:18,420,989T/C—likely benign
rs20007582611:18,421,013C/T—likely benign
rs14485659811:18,421,014G/A—uncertain significance
rs213402157811:18,421,021A/G—uncertain significance
rs74922097411:18,421,023T/C—likely benign
rs14958899211:18,421,034G/A—conflicting classifications of pathogenicity
rs136564944211:18,421,040G/A—uncertain significance
rs20125430011:18,421,073A/G—conflicting classifications of pathogenicity
rs77716015911:18,421,082T/C—likely benign
rs249461182911:18,421,095G/A—likely pathogenic
rs475765211:18,421,237C/T—benign
rs249461696111:18,422,373C/T—likely benign
rs142633229511:18,422,387A/G—uncertain significance
rs19965395211:18,422,388T/C—conflicting classifications of pathogenicity
rs20033281311:18,422,408A/G—uncertain significance
rs104234234011:18,422,412G/C—likely benign
rs77810685711:18,422,419A/T—uncertain significance
rs20153036311:18,422,423C/T—uncertain significance
rs20216007211:18,422,424G/A—conflicting classifications of pathogenicity
rs20072459711:18,422,430G/A—likely benign
rs101895570111:18,422,435G/A—uncertain significance
rs37019338911:18,422,439G/A—likely benign
rs186646277311:18,422,447G/A—uncertain significance
rs148036707811:18,422,454C/T—likely benign
rs74552215211:18,422,471A/G—uncertain significance
rs19952148611:18,422,473C/T—uncertain significance
rs77165347811:18,422,474G/A—uncertain significance
rs76169869311:18,422,478C/T—likely benign
rs186646462211:18,422,479G/A—uncertain significance
rs649811:18,422,487C/A—benign
rs75443949811:18,422,525C/T—uncertain significance
rs6175291511:18,422,526A/G—benign
rs186646690411:18,422,535G/T—uncertain significance
rs18407432611:18,422,545G/A—conflicting classifications of pathogenicity
rs77798837311:18,422,549C/A—pathogenic
rs186646741311:18,422,555C/T—uncertain significance
rs11818528711:18,424,110G/C—likely benign
rs1083293111:18,424,118A/T—benign
rs1083293211:18,424,223G/C—benign
rs1693541111:18,424,278A/C—benign
rs20115934311:18,424,370T/C—likely benign
rs20193700911:18,424,371T/G—likely benign
rs77082926411:18,424,403C/T—likely benign
rs20026827311:18,424,404G/A—uncertain significance
rs11684114811:18,424,407G/T—conflicting classifications of pathogenicity
rs14550665111:18,424,413A/G—uncertain significance
rs213402822211:18,424,428C/T—uncertain significance
rs36881512411:18,424,438G/A—uncertain significance
rs76876193611:18,424,444T/A—uncertain significance
rs468711:18,424,451C/T—benign
rs76277101911:18,424,452G/A—uncertain significance
rs249462519311:18,424,461C/A—uncertain significance
rs20137298511:18,424,473C/T—pathogenic
rs76017200811:18,424,480G/C—uncertain significance
rs482011:18,424,487A/G—benign
rs20058679211:18,424,506G/T—uncertain significance
rs75102192111:18,424,511C/T—likely benign
rs57003436311:18,424,526T/C—likely benign
rs20125240811:18,424,536C/T—uncertain significance
rs77077061411:18,424,567A/G—uncertain significance
rs77412881011:18,424,577T/G—likely benign
rs375868011:18,424,590T/A—benign
rs7825027311:18,424,685T/G—benign
rs1693541311:18,424,939G/A—likely benign
rs188171611:18,425,018T/C—benign
rs140261517511:18,425,221G/A—likely benign
rs75075469511:18,425,230A/G—likely benign
rs186657666111:18,425,234C/A—likely benign
rs37353486711:18,425,242G/C—likely benign
rs3430572111:18,425,256G/C—benign

Showing 100 of 176 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.