Variant: rs1553335247 

    present in Gene: FBXO11;MSH6
    present in Chromosome: 2
    Position on Chromosome: 47809195
    Alleles of this Variant: A/G

rs1553335247 in FBXO11;MSH6 gene and INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES PMID 29796876 2018 De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.

PMID 27620904 2017 High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.

PMID 30057029 2018 De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.