Variant: rs1555902810 

    present in Gene: RBFOX2
    present in Chromosome: 22
    Position on Chromosome: 35781685
    Alleles of this Variant: -/A

rs1555902810 in RBFOX2 gene and Dysmorphic features PMID 16260614 2005 Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals.

PMID 26785492 2015 De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

PMID 25205790 2014 Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

PMID 27211866 2016 RBFox2 Binds Nascent RNA to Globally Regulate Polycomb Complex 2 Targeting in Mammalian Genomes.

PMID 27485310 2016 Rbfox2 function in RNA metabolism is impaired in hypoplastic left heart syndrome patient hearts.

PMID 25753418 2015 Repression of the Central Splicing Regulator RBFox2 Is Functionally Linked to Pressure Overload-Induced Heart Failure.

rs1555902810 in RBFOX2 gene and Movement Disorders PMID 27485310 2016 Rbfox2 function in RNA metabolism is impaired in hypoplastic left heart syndrome patient hearts.

PMID 25205790 2014 Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

PMID 25753418 2015 Repression of the Central Splicing Regulator RBFox2 Is Functionally Linked to Pressure Overload-Induced Heart Failure.

PMID 27211866 2016 RBFox2 Binds Nascent RNA to Globally Regulate Polycomb Complex 2 Targeting in Mammalian Genomes.

PMID 16260614 2005 Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals.

PMID 26785492 2015 De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

rs1555902810 in RBFOX2 gene and Multiple congenital anomalies PMID 27211866 2016 RBFox2 Binds Nascent RNA to Globally Regulate Polycomb Complex 2 Targeting in Mammalian Genomes.

PMID 25205790 2014 Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

PMID 27485310 2016 Rbfox2 function in RNA metabolism is impaired in hypoplastic left heart syndrome patient hearts.

PMID 26785492 2015 De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

PMID 16260614 2005 Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals.

PMID 25753418 2015 Repression of the Central Splicing Regulator RBFox2 Is Functionally Linked to Pressure Overload-Induced Heart Failure.

rs1555902810 in RBFOX2 gene and Muscle hypotonia PMID 27211866 2016 RBFox2 Binds Nascent RNA to Globally Regulate Polycomb Complex 2 Targeting in Mammalian Genomes.

PMID 16260614 2005 Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals.

PMID 27485310 2016 Rbfox2 function in RNA metabolism is impaired in hypoplastic left heart syndrome patient hearts.

PMID 25205790 2014 Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

PMID 26785492 2015 De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

PMID 25753418 2015 Repression of the Central Splicing Regulator RBFox2 Is Functionally Linked to Pressure Overload-Induced Heart Failure.