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Last update

21/6/2017

Phenotype: L-2-hydroxyglutaric aciduria

OMIM: 236792
Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

L2HGDH || c.241A>G

Gene/Locus:	L2HGDH
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)

Phenotype: L-2-hydroxyglutaric aciduria

References