cDNA level identifier (NM_001256442):

c.(?_-949)_(*1242_?)del (0.544 Mb)

Archive identifier/Other designation:

16p11.2 microdeletion (0.544Mb; 29560500-30104842)

Reference, alternative allele:

A+0.544Mb, A

Genomic location hg(19)

16:29560499 (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).