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:
Consequence:
structural variation
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).