Mutation details:

Protein level identifier (NP_001243371):

p.Arg240*

cDNA level identifier (NM_001256442):

c.718C>T

Gene level identifier:

g.1917C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

16:29825093 (not available on ExAC)

Gene name:

PRRT2

Consequence:

nonsense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

14 heterozygous (14 in total).