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Relevance to Autism

A rare deletion in the ZSWIM5 gene has been identified with ASD (Salyakina et al., 2011).

Molecular Function

Unknown

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Integrating de novo and inherited variants in 42
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN293R001 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Extended multiplex 
 GEN293R002 
 splice_site_variant 
 c.2156-2A>G 
  
 Familial 
 Maternal 
 Multiplex 
 GEN293R003 
 frameshift_variant 
 c.116del 
 p.Ala39GlufsTer164 
 Familial 
 Paternal 
 Multiplex 
 GEN293R004 
 missense_variant 
 c.1861C>T 
 p.Arg621Cys 
 De novo 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
1
Deletion-Duplication
 16
 
1
Duplication
 1
 
1
Duplication
 1
 

No Animal Model Data Available

 

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