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Relevance to Autism

Differential expression of the FLT1 gene has been shown to occur in some autistic individuals (Hu et al., 2006).

Molecular Function

The encoded protein is a receptor for vascular endothelial growth factor.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of n...
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Genome-wide detection of tandem DNA repeats that are expanded in autism
ASD
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Highly Cited
Expression of vascular endothelial growth factors and their receptors during osteoblast differentiation.
Recent Recommendation
A SNP in the flt-1 promoter integrates the VEGF system into the p53 transcriptional network.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN092R001 
 missense_variant 
 c.3350T>C 
 p.Met1117Thr 
 De novo 
  
 Simplex 
 GEN092R002 
 microsatellite 
  
  
 Unknown 
  
 Simplex 
 GEN092R003 
 missense_variant 
 c.281T>C 
 p.Leu94Ser 
 De novo 
  
  
 GEN092R004 
 missense_variant 
 c.3769C>T 
 p.Arg1257Cys 
 De novo 
  
  
 GEN092R005 
 missense_variant 
 c.1778G>A 
 p.Arg593Gln 
 De novo 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
13
Duplication
 1
 
13
Deletion
 1
 
13
Duplication
 1
 
13
Duplication
 2
 
13
N/A
 1
 
13
Deletion
 1
 
13
Duplication
 2
 

No Animal Model Data Available

 

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