Mutation details:

Protein level identifier:

p.Val41Thrfs*93

cDNA level identifier:

c.121_122delGT

Genome level identifier:

g.1320_1321delGT

Reference, alternative allele:

GGT, G

Genetic location (hg19):

chr16:29824495 (not available on ExAC)

Gene name:

PRRT2

Consequence:

frameshift

Pathogenicity scoring:

probably pathogenic

CADD score:

24

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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