Mutation details:

Protein level identifier:

p.Glu194Argfs*6

cDNA level identifier:

c.579dupA

Genome level identifier:

g.1778dupA

Reference, alternative allele:

G, GA

Genetic location (hg19):

chr16:29824952 (not available on ExAC)

Gene name:

PRRT2

Consequence:

frameshift

Pathogenicity scoring:

probably pathogenic

CADD score:

24

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).

×