Variant: rs1554274371 

    present in Gene: HIVEP2
    present in Chromosome: 6
    Position on Chromosome: 142753484
    Alleles of this Variant: G/A

rs1554274371 in HIVEP2 gene and Multiple congenital anomalies PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 22294689 2012 Genome-wide repression of NF-κB target genes by transcription factor MIBP1 and its modulation by O-linked β-N-acetylglucosamine (O-GlcNAc) transferase.

PMID 26153216 2016 Loss-of-function variants in HIVEP2 are a cause of intellectual disability.

PMID 27003583 2016 Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.