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Relevance to Autism

Rare variants in the TERB2 gene (formerly known as the C15orf43 gene) have been identified with autism (Pinto et al., 2010).

Molecular Function

Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Functional impact of global rare copy number variation in autism spectrum disorders.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN027R001 
 copy_number_gain 
  
  
  
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 66
  construct
15
Deletion-Duplication
 8
 

No Animal Model Data Available

No PIN Data Available
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