Detail Information of AutCNV0000549

1. Sample AND Method Top

Users can click the chromosome coordinates of "Region" label to view information in UCSC Genome Browser.

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
AutG10585	POMT1	AR	Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
AutG7248	TSC1	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
AutG7248	TSC1	0	0	1	0	0	0	18
AutG5900	RALGDS	0	0	0	1	0	0	1

Simple Query:

Paper Collected: 6/30/2018

Last Update: 8/26/2018