Mutation details:

cDNA level identifier:

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

Archive identifier/Other designation:

16p11.2 microdeletion

Gene name:

PRRT2

Consequence:

structural variation

Pathogenicity scoring:

probably pathogenic

CADD score:

not available

Positive functional evidence:

not available

Diseases reported for this mutation:

PxMD-PRRT2

Number of all included cases:

1 compound heterozygous (1 in total).

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