Mutation details:

Protein level identifier (NP_001243371):

p.Tyr339*

cDNA level identifier (NM_001256442):

c.1011_1012+9delCGGTGAGTGGG

Gene level identifier:

g.2609_2619delCGGTGAGTGGG

Reference, alternative allele:

GCGGTGAGTGGG, G

Genomic location hg(19)

16:29825784 (not available on ExAC)

Gene name:

PRRT2

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).