Detail Information of AutCNV0004847
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 | |||||
| European | - | - | NDDs | - | - | - | - | 714 | 2528 | 3242 | Asadollahi R, 2014 |
| Population: | - | ||||||||||
| Platform: | Affymetrix and CytoScan array | ||||||||||
| Method: | CMA | ||||||||||
| Marker: | - | ||||||||||
| Band: | 17p13.3 | ||||||||||
| Evidences: | CNVs Only Present In Patients; Denovo CNVs; | ||||||||||
| Region: | Chr17: - (hg18: Chr17: 2519114-2523280) | ||||||||||
| 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 |
|---|---|---|---|
| AutG5048 | PAFAH1B1 | AD | 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! | |||||||||