Mutation details:

Protein level identifier (NP_001243371):

p.Thr108Glnfs*7

cDNA level identifier (NM_001256442):

c.322delA

Gene level identifier:

g.1521delA

Reference, alternative allele:

GA, G

Genomic location hg(19)

16:29824694 (not available on ExAC)

Gene name:

PRRT2

Consequence:

frameshift

Pathogenicity scoring:

Possibly pathogenic

CADD score:

13

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).