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

PRNP

Gene name: prion protein
OMIM ID: 176640
Chromosome location: 20p13

Mutations

Disease/PhenotypeCreutzfeldt-Jakob disease
DNA Change20 bp deletion
A.A. Change
Exon/Intron
Mutation Typedeletion
ReferenceLaplanche JL, Chatelain J, Launay JM, Gazengel C, Vidaud M.Deletion in prion protein gene in a Moroccan family.
Nucleic Acids Res. 1990 Nov 25;18(22):6745.
Disease/PhenotypeCreutzfeldt-Jakob disease
Reference transcriptNM_000311.3
DNA Changec.628G>A
A.A. Changep.Val210Ile
Exon/Intronexon 2
Mutation Typesubstitution
ReferenceMouillet-Richard S, Teil C, Lenne M, Hugon S, Taleb O, Laplanche JL.Mutation at codon 210 (V210I) of the prion protein gene in a North African patient with Creutzfeldt-Jakob disease.
J Neurol Sci. 1999 Oct 15;168(2):141-4.

  Variant not named according to HGVS recommendations