Mutation details:

Protein level identifier (NP_001243371):

p.Pro63Glnfs*70

cDNA level identifier (NM_001256442):

c.186_187delGC

Gene level identifier:

g.1385_1386delGC

Reference, alternative allele:

GGC, G

Genomic location hg(19)

16:29824560 (not available on ExAC)

Gene name:

PRRT2

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

22

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).