Mutation details:

Protein level identifier:

p.Thr72Argfs*62

cDNA level identifier:

c.215_216delCA

Genome level identifier:

g.1414_1415delCA

Reference, alternative allele:

CCA, C

Genetic location (hg19):

chr16:29824587 (not available on ExAC)

Gene name:

PRRT2

Consequence:

frameshift

Pathogenicity scoring:

probably pathogenic

CADD score:

26

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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