Mutation details:

Protein level identifier (NP_001243371):

p.Gly305Arg

cDNA level identifier (NM_001256442):

c.913G>A

Gene level identifier:

g.2511G>A

Reference, alternative allele:

G, A

Genomic location hg(19)

16:29825687

Gene name:

PRRT2

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

29

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

5 heterozygous (5 in total).