Variant: rs1554074684 

    present in Gene: NR2F1;NR2F1-AS1
    present in Chromosome: 5
    Position on Chromosome: 93585448
    Alleles of this Variant: G/A;T

rs1554074684 in NR2F1;NR2F1-AS1 gene and Muscle hypotonia PMID 28654857 2017 Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene (NR2F1) mutation.

PMID 26138355 2016 Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

PMID 26986877 2016 The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.

PMID 25877686 2015 Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.

PMID 24781210 2014 The genetic landscape of infantile spasms.

PMID 11511537 2001 COUP-TFI: an intrinsic factor for early regionalization of the neocortex.

PMID 24462372 2014 NR2F1 mutations cause optic atrophy with intellectual disability.

PMID 23300014 2013 NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay.

PMID 14738874 2004 The nuclear orphan receptor COUP-TFI is important for differentiation of oligodendrocytes.

PMID 20147377 2010 COUP-TFs regulate eye development by controlling factors essential for optic vesicle morphogenesis.

PMID 10624948 1999 The nuclear orphan receptor COUP-TFI is required for differentiation of subplate neurons and guidance of thalamocortical axons.

PMID 19812316 2009 The spatial patterning of mouse cone opsin expression is regulated by bone morphogenetic protein signaling through downstream effector COUP-TF nuclear receptors.