Gene: L-2-hydroxyglutarate dehydrogenase; L2HGDH


Gene Symbol: L2HGDH
OMIM: 609584
Chromosome location: 14q21.3

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L-2-hydroxyglutaric aciduria || c.241A>G

Phenotype:    L-2-hydroxyglutaric aciduria
Dna Change:    c.241A>G
Protein Change:    p.Lys81Glu
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 2
Transcript:    NM_024884.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TunisiaNANA14 patientsNA et al., 2014 , . Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.. J. Hum. Genet.. 2014; 0(0):

References

, Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.J. Hum. Genet.. 2014; 0(0):