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Last update

21/6/2017

Gene: L-2-hydroxyglutarate dehydrogenase; L2HGDH

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

Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD

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

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Tunisia	NA	NA	14 patients	NA	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):

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: L-2-hydroxyglutarate dehydrogenase; L2HGDH

References