Mutation details:

Protein level identifier (NP_001243371):

p.Ala130Profs*46

cDNA level identifier (NM_001256442):

c.388delG

Gene level identifier:

g.1587delG

Reference, alternative allele:

AG, A

Genomic location hg(19)

16:29824762 (not available on ExAC)

Gene name:

PRRT2

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).