Detail Information of AutCNV0000433
1. Sample AND Method Top
Users can click the chromosome coordinates of "Region" label to view information in UCSC Genome Browser.
| Ancestry | ADI-R | ADOS | Diagnosis | Family | Individual | Reference | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | |||||
| Caucasion |  |  | ASD | - | - | - | - | 119 | 54 | 173 | Gregory, 2009 |
| Population: | USA | ||||||||||
| Platform: | Genetix Qarray2 | ||||||||||
| Method: | aCGH | ||||||||||
| Marker: | - | ||||||||||
| Band: | 16q12.2 | ||||||||||
| Evidences: | Denovo CNVs; | ||||||||||
| Region: | Chr16: 53708132-54068997 | ||||||||||
| Gain/Loss: | Loss | ||||||||||
2. Related Syndromic Genes TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Gene ID | Gene Symbol | Inheritance | Evidence Level |
|---|---|---|---|
| AutG23322 | RPGRIP1L | AR | Level 3: The gene has been reported in many families with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
3. Related Non-syndromic Genes Top| Gene ID | Gene Symbol | Evidence Score | Total Score | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Low-Scale Association | GWAS | Low-Scale Single Gene | Expression | CNV | Linkage | ||||
| No data! | |||||||||