Creutzfeldt-Jakob disease

OMIM:123400
Mode of inheritance:Autosomal dominant
Disease classification:Certain infectious and parasitic diseases

Mutations

Gene Symbol	PRNP
Reference transcript	NM_000311.3
DNA Change	c.628G>A
A.A. Change	p.Val210Ile
Exon/Intron	exon 2
Mutation Type	substitution
Reference	Mouillet-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.

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Gene Symbol	PRNP
DNA Change	20 bp deletion
A.A. Change
Exon/Intron
Mutation Type	deletion
Reference	Laplanche 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.

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  Variant not named according to HGVS recommendations