present in Gene: SET
present in Chromosome: 9
Position on Chromosome: 128691970
Alleles of this Variant: T/G
rs1554776500 in
SET gene and
MENTAL RETARDATION, AUTOSOMAL DOMINANT 58
PMID 29688601 2018 De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability.
PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.