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Relevance to Autism

Two non-synonymous postzygotic mosaic mutations (PZMs) in the MSANTD2 gene were identified in ASD probands in Lim et al., 2017; comparison with a background set of 84,448 privately inherited variants demonstrated that this gene harbored more PZMs than expected genome-wide based on background rates (2/571 observed vs. 1/84,448 expected; hypergeometric P-value < 1.0E-06).

Molecular Function

This gene encodes a protein of unknown function.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN921R001 
 missense_variant 
 T>G 
 p.Thr404Pro 
 De novo 
  
  
 GEN921R002 
 missense_variant 
 G>A 
 p.Arg271Cys 
 De novo 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Duplication
 1
 
11
Duplication
 1
 
11
Deletion
 5
 
11
Duplication
 1
 
11
Deletion-Duplication
 4
 
11
Deletion
 6
 

No Animal Model Data Available

No PIN Data Available
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