Detail Information of AutCNV0004910
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 | |||||
- | autism | - | - | - | - | 1 | - | 1 | Castronovo C, 2015 | ||
Complication: | Y | ||||||||||
Population: | - | ||||||||||
Platform: | Human Genome CGH Microarray Kit 244?K | ||||||||||
Method: | aCGH;FISH | ||||||||||
Marker: | - | ||||||||||
Band: | 21q22.3 | ||||||||||
Evidences: | CNVs Only Present In Patients; | ||||||||||
Region: | Chr21: 43653994-43773744 | ||||||||||
Gain/Loss: | gain |
2. Related Syndromic Genes Top
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! |
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 | |||
AutG54436 | SH3TC1 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |