Mutation details:

Protein level identifier (NP_001243371):

p.Leu171Serfs*3

cDNA level identifier (NM_001256442):

c.510dupT

Gene level identifier:

g.1709dupT

Reference, alternative allele:

A, AT

Genomic location hg(19)

16:29824883 (not available on ExAC)

Gene name:

PRRT2

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).