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Relevance to Autism

De novo variants in this gene were identified in two separate reports using ASD probands from the Simons Simplex Collection (Sanders et al. 2012a, 2012b)

Molecular Function

May play a cooperative role in NF2-mediated growth suppression of cells.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN475R001 
 missense_variant 
 c.1108C>T 
 p.Arg370Cys 
 De novo 
  
 Simplex 
 GEN475R002 
 missense_variant 
 c.1931A>G 
 p.Asp644Gly 
 De novo 
  
 Simplex 
 GEN475R003 
 splice_site_variant 
 c.1185+2T>C 
 p.? 
 Familial 
 Paternal 
 Simplex 
 GEN475R004 
 splice_site_variant 
 c.1853+1G>A 
 p.? 
 Familial 
 Paternal 
 Simplex 
 GEN475R005 
 synonymous_variant 
 c.1680G>T 
 p.(=) 
 De novo 
  
 Unknown 
 GEN475R006 
 missense_variant 
 G>A 
 p.Arg415Gln 
 De novo 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
22
Duplication
 1
 
22
Duplication
 1
 
22
Duplication
 1
 
22
Deletion-Duplication
 24
 
22
Duplication
 1
 
22
Duplication
 1
 

No Animal Model Data Available

 

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