SYT17
Homo sapiens
Gene Name: synaptotagmin XVII
Aliases:
Chromosome No: 16
Chromosome Band: 16p12.3
Genetic Category: Genetic Association-Rare single gene variant
Aliases:
Chromosome No: 16
Chromosome Band: 16p12.3
Genetic Category: Genetic Association-Rare single gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 2
Evidence score: 2
ASD Reports: 5
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 2
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the SYT17 gene and autism in two large cohorts (AGRE and ACC) of European ancestry and replicated in two other cohorts (CAP and CART) (Wang et al., 2009).
Molecular Function
This protein belongs to the synaptotagmin family and contains two C2 domains.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
ASD
Positive Association
A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social res...
ASD
Support
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia
ASD
Support
Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New Zealand
ASD
Support
Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN246C001
intron_variant
rs9932538
c.951+13100A>G;c.939+13100A>G;c.768+13100A>G
G/A
US and European
Discovery
GEN246C002
intron_variant
rs9932538
c.951+13100A>G;c.939+13100A>G;c.768+13100A>G
Discovery cohort: 2165 participants from AGRE
Discovery
