Mutation details:

Protein level identifier (NP_001243371):

p.Glu173*

cDNA level identifier (NM_001256442):

c.516dupT

Gene level identifier:

g.1715dupT

Reference, alternative allele:

C, CT

Genomic location hg(19)

16:29824890 (not available on ExAC)

Gene name:

PRRT2

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).