Mutation details:

Protein level identifier (NP_001243371):

p.Val109Serfs*25

cDNA level identifier (NM_001256442):

c.324dupA

Gene level identifier:

g.1523dupA

Reference, alternative allele:

C, CA

Genomic location hg(19)

16:29824698 (not available on ExAC)

Gene name:

PRRT2

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

19

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).