cDNA level identifier (NM_001256442):

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

Genomic location hg(19)

16:29656683 (not available on ExAC)

Gene name:

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).