Mutation details:

Protein level identifier (NP_001243371):

p.Ser172Argfs*3

cDNA level identifier (NM_001256442):

c.514_517delTCTG

Gene level identifier:

g.1713_1716delTCTG

Reference, alternative allele:

TTCTG, T

Genomic location hg(19)

16:29824884 (not available on ExAC)

Gene name:

PRRT2

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).