Detail Information of AutCNV0000296
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 | Goizet, 2000 | ||
Population: | - | ||||||||||
Platform: | - | ||||||||||
Method: | FISH | ||||||||||
Marker: | D22S39 | ||||||||||
Band: | 22q13.3 | ||||||||||
Evidences: | Denovo CNVs; | ||||||||||
Region: | Chr22: 44268667-51244566 (Deduced by Band) | ||||||||||
Gain/Loss: | loss |
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 |
---|---|---|---|
AutG85358 | SHANK3 | 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