Mutation details:

Protein level identifier (n.a.):

p.Glu194Argfs*6

cDNA level identifier (n.a.):

c.579dupA

Genome level identifier:

g.1778dupA

Reference, alternative allele:

G, GA

Genetic location hg(19)

(not available on ExAC)

Gene name:

PRRT2

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).

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