Mutation details:

Protein level identifier (NP_001243371):

p.Arg311Trp

cDNA level identifier (NM_001256442):

c.931C>T

Gene level identifier:

g.2529C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

16:29825705

Gene name:

PRRT2

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).