Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

FH

Gene name: fumarate hydratase
OMIM ID: 136850
Chromosome location: 1q43

Mutations

Disease/PhenotypeFumarase deficiency
DNA Change955G>C
A.A. ChangeGlu319Gln
Exon/Intronexon 7
Mutation Typesubstitution
ReferenceBourgeron 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.

  Variant not named according to HGVS recommendations