Detail Information of AutCNV0000126
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 |  | | ASD | - | - | - | - | 29 | - | 29 | Jacquemont, 2006 |
| Population: | France | ||||||||||
| Platform: | - | ||||||||||
| Method: | aCGH | ||||||||||
| Marker: | - | ||||||||||
| Band: | 1p36 | ||||||||||
| Evidences: | Denovo CNVs; | ||||||||||
| Region: | Chr1: 996262-2996265 | ||||||||||
| 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 | |||
| AutG79258 | MMEL1 | 0 | 0 | 1 | 0 | 1 | 0 | 12 |
| AutG142678 | MIB2 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG199990 | C1orf86 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG6339 | SCNN1D | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG2563 | GABRD | 0 | 0 | 0 | 1 | 1 | 0 | 3 |