Fumarase deficiency

OMIM:606812
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease

Mutations

Gene Symbol	FH
DNA Change	955G>C
A.A. Change	Glu319Gln
Exon/Intron	exon 7
Mutation Type	substitution
Reference	Bourgeron T, Chretien D, Poggi-Bach J, Doonan S, Rabier D, Letouze P, Munnich A, R?tig A, Landrieu P, Rustin P.Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. J Clin Invest. 1994 Jun;93(6):2514-8.

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  Variant not named according to HGVS recommendations