Mutation details:

cDNA level identifier (NM_001256442):

c.(?_-949)_(*1242_?)del (0.53 Mb)

Archive identifier/Other designation:

16p11.2 microdeletion (0.53Mb; 29581455-30106101)

Reference, alternative allele:

A+0.53Mb, A

Genomic location hg(19)

16:29581454 (not available on ExAC)

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 heterozygous (1 in total).