Detail Information of AutCNV0004955


Ancestry | ADI-R | ADOS | Diagnosis | Family | Individual | Reference | |||||
---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | |||||
Caucasion | ![]() | ![]() | autism, ASD | 912 | - | 912 | - | - | 1488 | - | Bucan, 2009 |
Population: | USA | ||||||||||
Platform: | Illumina HumanHap550 version 3 array | ||||||||||
Method: | SNP microarray | ||||||||||
Marker: | gdups | ||||||||||
Band: | 22q11.21 | ||||||||||
Evidences: | Overlapping/Recurrent CNVs; CNVs Not Present In Control; | ||||||||||
Region: | Chr22: 18243040 - 18309359 | ||||||||||
Gain/Loss: | Gain |


Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
Gene ID | Gene Symbol | Inheritance | Evidence Level |
---|---|---|---|
No data! |


Gene ID | Gene Symbol | Evidence Score | Total Score | |||||
---|---|---|---|---|---|---|---|---|
Low-Scale Association | GWAS | Low-Scale Single Gene | Expression | CNV | Linkage | |||
AutG1312 | COMT | 2 | 0 | 1 | 0 | 2 | 1 | 18 |