Mutation details:

Protein level identifier:

p.Asp302Glyfs*39

cDNA level identifier:

c.904dupG

Genome level identifier:

g.2502dupG

Reference, alternative allele:

A, AG

Genetic location (hg19):

chr16:29825673 (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).

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