Mutation details:

Protein level identifier (NP_001243371):

p.Pro216His

cDNA level identifier (NM_001256442):

c.647C>A

Gene level identifier:

g.1846C>A

Reference, alternative allele:

C, A

Genomic location hg(19)

16:29825022

Gene name:

PRRT2

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).