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Relevance to Autism

Rare variants in the CIMAP1D gene (previously known as the ODF3L2 gene) have been identified in individuals with autism (Bucan et al., 2009; Zhou et al., 2022).

Molecular Function

Located in cytoplasmic microtubule.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.
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
 GEN183R001 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN183R002 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN183R003 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN183R004 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN183R005 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN183R006 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN183R007 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN183R008 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN183R009 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN183R010 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN183R011 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN183R012 
 missense_variant 
 c.778A>G 
 p.Met260Val 
 De novo 
  
  
 GEN183R013 
 missense_variant 
 c.652C>T 
 p.Arg218Cys 
 De novo 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model

No Animal Model Data Available

No PIN Data Available
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