Mutation details:

Protein level identifier (NP_001243371):

p.Arg266Trp

cDNA level identifier (NM_001256442):

c.796C>T

Gene level identifier:

g.1995C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

16:29825171

Gene name:

PRRT2

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

21

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).