Mutation details:

Protein level identifier:

p.Arg311Trp

cDNA level identifier:

c.931C>T

Genome level identifier:

g.2529C>T

Reference, alternative allele:

C, T

Genetic location (hg19):

chr16:29825705

Gene name:

PRRT2

Consequence:

missense

Pathogenicity scoring:

possibly pathogenic

CADD score:

33

Positive functional evidence:

not available

Diseases reported for this mutation:

PxMD-PRRT2

Number of all included cases:

1 homozygous (1 in total).

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