Mutation details:

Protein level identifier:

p.Arg217Profs*8

cDNA level identifier:

c.649dupC

Genome level identifier:

g.1848dupC

Archive identifier/Other designation:

c.insC649

Reference, alternative allele:

G, GC

Genetic location (hg19):

chr16:29825015

Gene name:

PRRT2

Consequence:

frameshift

Pathogenicity scoring:

definitely pathogenic

CADD score:

29

Positive functional evidence:

25915028

Number of all included cases:

5 homozygous, 608 heterozygous, 1 compound heterozygous (614 in total).

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