Mutation details:

Protein level identifier (NP_001243371):

p.Pro216Arg

cDNA level identifier (NM_001256442):

c.647C>G

Gene level identifier:

g.1846C>G

Reference, alternative allele:

C, G

Genomic location hg(19)

16:29825022

Gene name:

PRRT2

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).