Mutation details:

Protein level identifier (NP_001243371):

p.Asp302Glyfs*39

cDNA level identifier (NM_001256442):

c.904dupG

Gene level identifier:

g.2502dupG

Reference, alternative allele:

A, AG

Genomic location hg(19)

16:29825673 (not available on ExAC)

Gene name:

PRRT2

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).