Mutation details:

Protein level identifier (NP_001243371):

p.Cys332insAsp

cDNA level identifier (NM_001256442):

c.996_997insGAC

Gene level identifier:

g.2594_2595insGAC

Reference, alternative allele:

C, CGAC

Genomic location hg(19)

16:29825770 (not available on ExAC)

Gene name:

PRRT2

Consequence:

splice site

Pathogenicity scoring:

Possibly pathogenic

CADD score:

13

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).