Detail Information of AutCNV0004952

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
Ancestry	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total	Reference
-	-	-	ASD	-	-	-	-	259	-	259	Brand H, 2015
Population:	-
Platform:	-
Method:	CMA;WGS
Marker:	-
Band:
Evidences:	CNVs Only Present In Patients;
Region:	Chr8: 122405097-122426082
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
AutG7249	TSC2	AD	Level 4: The disorder is a generally acknowledged ASD related disorder.

3. Related Non-syndromic Genes Top

Gene ID	Gene Symbol	Evidence Score						Total Score
Gene ID	Gene Symbol	Low-Scale Association	GWAS	Low-Scale Single Gene	Expression	CNV	Linkage	Total Score
AutG7249	TSC2	1	0	1	0	2	1	46
AutG5310	PKD1	0	0	0	2	1	1	6

Simple Query:

Paper Collected: 6/30/2018

Last Update: 8/26/2018