Mutation details:

Protein level identifier:

p.Pro45Argfs*44

cDNA level identifier:

c.133_136delCCAG

Genome level identifier:

g.1332_1335delCCAG

Reference, alternative allele:

ACCAG, A

Genetic location (hg19):

chr16:29824503 (not available on ExAC)

Gene name:

PRRT2

Consequence:

frameshift

Pathogenicity scoring:

probably pathogenic

CADD score:

27

Positive functional evidence:

not available

Diseases reported for this mutation:

PxMD-PRRT2

Number of all included cases:

2 heterozygous (2 in total).

×