Mutation details:

Protein level identifier:

p.Arg266Gln

cDNA level identifier:

c.797G>A

Genome level identifier:

g.1996G>A

Reference, alternative allele:

G, A

Genetic location (hg19):

chr16:29825172

Gene name:

PRRT2

Consequence:

missense

Pathogenicity scoring:

possibly pathogenic

CADD score:

21

Positive functional evidence:

not available

Diseases reported for this mutation:

PxMD-PRRT2

Number of all included cases:

1 heterozygous (1 in total).

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