Variant: rs878854402

present in Gene: TBL1XR1 present in Chromosome: 3 Position on Chromosome: 177033050 Alleles of this Variant: T/C

rs878854402 in TBL1XR1 gene and Plantar Lipomatosis, Unusual Facies, and Developmental Delay PMID 26769062 2016 A specific mutation in TBL1XR1 causes Pierpont syndrome.