Variant: rs878854401 

    present in Gene: TBL1XR1
    present in Chromosome: 3
    Position on Chromosome: 177047518
    Alleles of this Variant: T/C

rs878854401 in TBL1XR1 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 PMID 25102098 2014 A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 27133561 2016 Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.