Mutation details:

Protein level identifier (n.a.):

p.Val325Serfs*12

cDNA level identifier (n.a.):

c.972delA

Genome level identifier:

g.2570delA

Reference, alternative allele:

GA, G

Genetic location hg(19)

(not available on ExAC)

Gene name:

PRRT2

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).

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