Mutation details:

Protein level identifier:

p.Val109Serfs*25

cDNA level identifier:

c.324dupA

Genome level identifier:

g.1523dupA

Reference, alternative allele:

C, CA

Genetic location (hg19):

chr16:29824698 (not available on ExAC)

Gene name:

PRRT2

Consequence:

frameshift

Pathogenicity scoring:

probably pathogenic

CADD score:

19

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).

×