Mutation details:

Protein level identifier (NP_001243371):

p.Gly337=

cDNA level identifier (NM_001256442):

c.1011C>T

Gene level identifier:

g.2609C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

16:29825785

Gene name:

PRRT2

Consequence:

silent

Pathogenicity scoring:

Possibly pathogenic

CADD score:

15

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).