Mutation details:

Protein level identifier:

p.Pro63Glnfs*70

cDNA level identifier:

c.186_187delGC

Genome level identifier:

g.1385_1386delGC

Reference, alternative allele:

GGC, G

Genetic location (hg19):

chr16:29824560 (not available on ExAC)

Gene name:

PRRT2

Consequence:

frameshift

Pathogenicity scoring:

probably pathogenic

CADD score:

22

Positive functional evidence:

not available

Diseases reported for this mutation:

PxMD-PRRT2

Number of all included cases:

2 heterozygous (2 in total).

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