Mutation details:

Protein level identifier:

p.Ala306Asp

cDNA level identifier:

c.917C>A

Genome level identifier:

g.2515C>A

Reference, alternative allele:

C, A

Genetic location (hg19):

chr16:29825691 (not available on ExAC)

Gene name:

PRRT2

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

28

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).

×