Mutation details:

Protein level identifier (NP_001243371):

p.*341Cysext*28

cDNA level identifier (NM_001256442):

c.1023A>T

Gene level identifier:

g.2783A>T

Reference, alternative allele:

A, T

Genomic location hg(19)

16:29825959 (not available on ExAC)

Gene name:

PRRT2

Consequence:

nonsense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

16

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).