Mutation details:

Protein level identifier (NP_001243371):

p.Arg217Glufs*12

cDNA level identifier (NM_001256442):

c.649delC

Gene level identifier:

g.1848delC

Archive identifier/Other designation:

c.insC649

Reference, alternative allele:

GC, G

Genomic location hg(19)

16:29825015

Gene name:

PRRT2

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

30

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

16 heterozygous (16 in total).