Mutation details:

Protein level identifier (NP_001243371):

p.Ala306Asp

cDNA level identifier (NM_001256442):

c.917C>A

Gene level identifier:

g.2515C>A

Reference, alternative allele:

C, A

Genomic location hg(19)

16:29825691 (not available on ExAC)

Gene name:

PRRT2

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

28

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).