Mutation details:

Protein level identifier (NP_001243371):

p.Ser202Hisfs*26

cDNA level identifier (NM_001256442):

c.601_604delCACT

Gene level identifier:

g.1800_1803delCACT

Reference, alternative allele:

TCACT, T

Genomic location hg(19)

16:29824975 (not available on ExAC)

Gene name:

PRRT2

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

8 heterozygous (8 in total).