Mutation details:

cDNA level identifier:

c.(?_-949)_(*1242_?)del (0.534 Mb)

Archive identifier/Other designation:

16p11.2 microdeletion (0.534Mb; 29564185-30098069; hg18)

Reference, alternative allele:

T+0.5339Mb, T

Genetic location (hg19):

chr16:29656683 (not available on ExAC)

Gene name:

PRRT2

Consequence:

structural variation

Pathogenicity scoring:

probably pathogenic

CADD score:

50

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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