cDNA level identifier (NM_001256442):

c.(?_-949)_(*1242_?)del (0.895 Mb)

Archive identifier/Other designation:

16p11.2 microdeletion (0.895Mb; 29303244-30198151)

Reference, alternative allele:

C+0.895Mb, C

Genomic location hg(19)

16:29303243 (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).