Mutation details:

Protein level identifier (NP_001243371):

p.Ser124Valfs*10

cDNA level identifier (NM_001256442):

c.369dupG

Gene level identifier:

g.1568dupG

Reference, alternative allele:

A, AG

Genomic location hg(19)

16:29824740 (not available on ExAC)

Gene name:

PRRT2

Consequence:

frameshift

Pathogenicity scoring:

Possibly pathogenic

CADD score:

11

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).