present in Gene: AFF4
present in Chromosome: 5
Position on Chromosome: 132934293
Alleles of this Variant: G/A
rs786205680 in
AFF4 gene and
CHOPS SYNDROME
PMID 25730767 2015 Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.