Mutation details:

Protein level identifier (NP_001243371):

p.Arg217*

cDNA level identifier (NM_001256442):

c.649C>T

Gene level identifier:

g.1848C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

16:29825024 (not available on ExAC)

Gene name:

PRRT2

Consequence:

nonsense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

36

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

13 heterozygous (13 in total).