Mutation details:

Protein level identifier (n.a.):

p.Ser202Hisfs*26

cDNA level identifier (n.a.):

c.601_604delCACT

Genome level identifier:

g.1800_1803delCACT

Reference, alternative allele:

TCACT, T

Genetic location hg(19)

(not available on ExAC)

Gene name:

PRRT2

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

24

Positive functional evidence:

not available

Number of all included cases:

8 heterozygous (8 in total).

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