Mutation details:

Protein level identifier (NP_001243371):

p.*341Lysext*37

cDNA level identifier (NM_001256442):

c.1020_1021insATAAG

Gene level identifier:

g.2780_2781insATAAG

Reference, alternative allele:

G, GATAAG

Genomic location hg(19)

16:29825956 (not available on ExAC)

Gene name:

PRRT2

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).