GLUD1

glutamate dehydrogenase 1

Summary

This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretion. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results in multiple transcript variants. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Related pseudogenes have been identified on chromosomes 10, 18 and X. [provided by RefSeq, Jan 2016]

Known Variants213 total

rsidPosition (GRCh37)AllelesClassClinVar
rs88604736610:88,809,960G/A—uncertain significance
rs88604736710:88,809,963G/A—uncertain significance
rs184559409410:88,809,993T/C—uncertain significance
rs76845039410:88,810,007C/G—uncertain significance
rs88604736810:88,810,044G/A—uncertain significance
rs88604736910:88,810,072C/T—uncertain significance
rs89569757610:88,810,089A/C—uncertain significance
rs18181397210:88,810,129G/A—likely benign
rs18193120710:88,810,226C/G—likely benign
rs88604737010:88,810,238G/A—uncertain significance
rs88604737110:88,810,256A/G—uncertain significance
rs184560557810:88,810,297A/G—uncertain significance
rs54229844510:88,810,327G/T—uncertain significance
rs184560849110:88,810,369A/G—uncertain significance
rs76673055410:88,810,510G/A—uncertain significance
rs1298010:88,810,536C/T—likely benign
rs76020721110:88,810,538T/C—uncertain significance
rs14094283010:88,810,600A/G—likely benign
rs143074270510:88,810,640T/G—uncertain significance
rs15026012410:88,810,656T/C—likely benign
rs88604737210:88,811,012C/T—uncertain significance
rs56647479410:88,811,039G/T—uncertain significance
rs56959584910:88,811,153A/C—likely benign
rs88604737310:88,811,303T/C—uncertain significance
rs76010177610:88,811,444A/G—uncertain significance
rs37370561310:88,811,533T/C—uncertain significance
rs75648457110:88,811,538C/G—likely benign
rs213377308910:88,811,548A/G—uncertain significance
rs37006205610:88,811,568A/G—likely benign
rs143316123210:88,811,580T/A—uncertain significance
rs103393068110:88,811,592T/A—likely benign
rs76193371810:88,811,617C/T—uncertain significance
rs132933143510:88,811,632A/T—uncertain significance
rs20187239010:88,813,087C/T—conflicting classifications of pathogenicity
rs74863518710:88,813,102G/C—likely benign
rs12190973010:88,813,137G/Amissense variantpathogenic
rs253979897010:88,813,138C/T—likely benign
rs77477149610:88,813,141G/A—conflicting classifications of pathogenicity
rs213377737910:88,813,149T/C—pathogenic
rs12190973210:88,813,155A/Gmissense variantpathogenic
rs75625968510:88,813,156T/C—conflicting classifications of pathogenicity
rs79704559710:88,813,158C/Tmissense variantpathogenic
rs12190973410:88,813,160C/Gmissense variantpathogenic
rs12190973310:88,813,161C/Tmissense variantuncertain significance
rs213377746110:88,813,175G/T—likely benign
rs11695697110:88,814,118C/Tintron variant—
rs19112518310:88,816,990C/Tintron variant—
rs75986584210:88,817,448C/T—uncertain significance
rs12190973110:88,817,449G/Amissense variantpathogenic
rs213378886510:88,817,463G/T—uncertain significance
rs14184488710:88,817,472C/T—likely benign
rs213378890710:88,817,476G/A—conflicting classifications of pathogenicity
rs213378893410:88,817,488A/G—likely benign
rs116959206910:88,817,500T/A—uncertain significance
rs88604737410:88,817,550A/G—conflicting classifications of pathogenicity
rs20206723210:88,818,897C/T—conflicting classifications of pathogenicity
rs213379219210:88,818,907T/G—uncertain significance
rs213379221510:88,818,930C/G—uncertain significance
rs77822865210:88,818,938T/C—likely benign
rs253981390110:88,818,951C/T—conflicting classifications of pathogenicity
rs103198627910:88,818,959G/A—likely benign
rs184586667310:88,818,965A/G—likely benign
rs184586808110:88,819,033A/G—uncertain significance
rs37454826110:88,819,036C/T—uncertain significance
rs253981444310:88,819,049C/A—likely benign
rs253981659410:88,819,927C/G—uncertain significance
rs91523120610:88,819,931A/G—uncertain significance
rs213379412310:88,819,947A/T—uncertain significance
rs253981671810:88,819,957A/T—likely benign
rs145968744810:88,819,971T/C—uncertain significance
rs147613756010:88,819,987T/C—likely benign
rs116661601710:88,819,994A/G—uncertain significance
rs141533466710:88,820,004A/G—uncertain significance
rs20142173010:88,820,007G/C—benign
rs54924716110:88,820,425G/C—likely benign
rs253981907710:88,820,440G/T—uncertain significance
rs77756438810:88,820,461G/A—uncertain significance
rs77090244210:88,820,466G/A—likely benign
rs20081378410:88,820,467T/C—uncertain significance
rs158935877510:88,820,510T/C—uncertain significance
rs77524768410:88,820,519C/T—uncertain significance
rs118336484810:88,820,520G/A—likely benign
rs213379552310:88,820,531T/C—uncertain significance
rs77022827910:88,820,533C/T—uncertain significance
rs76689657510:88,820,542T/C—uncertain significance
rs77411515610:88,820,572G/A—uncertain significance
rs75286632310:88,820,579G/A—conflicting classifications of pathogenicity
rs1709642110:88,820,592A/T—benign
rs12190973510:88,820,685T/Gmissense variantpathogenic
rs116974444210:88,820,705A/G—likely benign
rs253982013410:88,820,725T/C—uncertain significance
rs77959576710:88,820,753T/C—likely benign
rs12190973710:88,820,766C/Tmissense variantpathogenic
rs77488091710:88,820,769T/C—uncertain significance
rs155490613310:88,820,775T/C—pathogenic
rs253982037710:88,820,776A/T—uncertain significance
rs213379606510:88,820,777T/A—likely pathogenic
rs12190973610:88,820,778C/Tmissense variantuncertain significance
rs116708963910:88,820,782T/C—conflicting classifications of pathogenicity
rs253982041910:88,820,787T/C—pathogenic

Showing 100 of 213 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.