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

BTD

Gene name: biotinidase
OMIM ID: 609019
Chromosome location: 3p25.1

Mutations

Disease/PhenotypeBiotinidase deficiency
Reference transcriptNM_000060.2
DNA Changec.1052delC
A.A. Changep.Thr351LysfsX12
Exon/Intronexon4
Mutation Typedeletion
ReferenceIqbal F, Item CB, Vilaseca MA, Jalan A, M?hl A, Couce ML, Duat A, Delgado MP, Bosch J, Puche A, Campistol J, Pineda M, Bodamer OA.The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC).
Mol Genet Metab. 2010 May;100(1):42-5.
Disease/PhenotypeBiotinidase deficiency
Reference transcriptNM_000060.2
DNA Changec.1264_1265insC
A.A. Changep.Leu422ProfsX23
Exon/Intronexon4
Mutation Typeinsertion
ReferenceIqbal F, Item CB, Vilaseca MA, Jalan A, M?hl A, Couce ML, Duat A, Delgado MP, Bosch J, Puche A, Campistol J, Pineda M, Bodamer OA.The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC).
Mol Genet Metab. 2010 May;100(1):42-5.
Disease/PhenotypeBiotinidase deficiency
Reference transcriptNM_000060.2
DNA Changec.98_104delinsTCC
A.A. Changep.Cys33PhefsX36
Exon/Intronexon2
Mutation Typeindel
ReferenceIqbal F, Item CB, Vilaseca MA, Jalan A, M?hl A, Couce ML, Duat A, Delgado MP, Bosch J, Puche A, Campistol J, Pineda M, Bodamer OA.The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC).
Mol Genet Metab. 2010 May;100(1):42-5.