Mutation details:

Protein level identifier (n.a.):

p.Asp302Glyfs*39

cDNA level identifier (n.a.):

c.904dupG

Genome level identifier:

g.2502dupG

Reference, alternative allele:

A, AG

Genetic location hg(19)

(not available on ExAC)

Gene name:

PRRT2

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

33

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).

×