Mutation details:

cDNA level identifier (NM_001256442):

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

Archive identifier/Other designation:

16p11.2 microdeletion

Genomic location hg(19)

not available

Gene name:

PRRT2

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).