Variant: rs1563686762 

    present in Gene: RAD21;UTP23
    present in Chromosome: 8
    Position on Chromosome: 116847620
    Alleles of this Variant: GTT/-

rs1563686762 in RAD21;UTP23 gene and Abnormality of the genital system PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and Acid reflux PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and Blepharoptosis PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and Byzanthine arch palate PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and CORNELIA DE LANGE SYNDROME 4 PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and Congenital diaphragmatic hernia PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and Global developmental delay PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and Highly arched eyebrow PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and Long eyelashes PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and Low-set, posteriorly rotated ears PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and Microcephaly (physical finding) PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and Micrognathism PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and Poor school performance PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and Prominent digit pad PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and Single transverse palmar crease PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and Synophrys PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.