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Relevance to Autism

Rare variants in the OR1C1 gene have been identified with autism (Bucan et al., 2009).

Molecular Function

odorant receptor

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
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Recent Recommendation
High-resolution copy-number variation map reflects human olfactory receptor diversity and evolution.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN186R001 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN186R002 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN186R003 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN186R004 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN186R005 
 stop_gained 
 c.369T>A 
 p.Tyr123Ter 
 Familial 
 Paternal 
 Multiplex 
 GEN186R006 
 missense_variant 
 c.116C>T 
 p.Thr39Ile 
 Unknown 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
1
Duplication
 44
 
1
Duplication
 1
 
1
Duplication
 2
 
1
Duplication
 1
 
1
Deletion
 2
 
1
Deletion
 2
 
1
Duplication
 1
 
1
Duplication
 10
 
1
Deletion-Duplication
 58
 

No Animal Model Data Available

 

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