Mutation details:

Protein level identifier (NP_001243371):

p.Glu194Argfs*6

cDNA level identifier (NM_001256442):

c.579dupA

Gene level identifier:

g.1778dupA

Reference, alternative allele:

G, GA

Genomic location hg(19)

16:29824952 (not available on ExAC)

Gene name:

PRRT2

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).