Variant: rs397514705 

    present in Gene: SHANK3
    present in Chromosome: 22
    Position on Chromosome: 50678666
    Alleles of this Variant: C/G

rs397514705 in SHANK3 gene and 22q13.3 Deletion Syndrome PMID 22892527 2013 Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.

PMID 23758760 2013 Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.

PMID 24132240 2013 SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients.