Detail Information of AutCNV0000295
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 | |||||
| Not Mentioned |  |  | autism | - | - | - | - | 1 | - | 1 | Michaelis, 1997 |
| Complication: | short-segment HSCR | ||||||||||
| Population: | - | ||||||||||
| Platform: | - | ||||||||||
| Method: | STS mapping | ||||||||||
| Marker: | D20S104-PCSK2 | ||||||||||
| Band: | 20p11.22-11.23 | ||||||||||
| Evidences: | CNVs Only Present In Patients; | ||||||||||
| Region: | Chr20: 16139053-17517220 | ||||||||||
| 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 |
|---|---|---|---|
| No data! | |||
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 | |||
| AutG5126 | PCSK2 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |