Gene Symbol: L2HGDH
OMIM: 609584Chromosome location: 14q21.3
Related informations:  
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Kyoto Encyclopedia  
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Phenotype: |    L-2-hydroxyglutaric aciduria |
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Dna Change: |    c.241A>G |
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Protein Change: |    p.Lys81Glu |
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Mutation Type: |    Substitution |
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Mutation Effect: |    Missense |
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Location: |    exon 2 |
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Transcript: |    NM_024884.2 |
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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):