Mutation details:

Protein level identifier (NP_001243371):

p.Pro45Argfs*44

cDNA level identifier (NM_001256442):

c.133_136delCCAG

Gene level identifier:

g.1332_1335delCCAG

Reference, alternative allele:

ACCAG, A

Genomic location hg(19)

16:29824503 (not available on ExAC)

Gene name:

PRRT2

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

27

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).