Variant: rs1555446980 

    present in Gene: MIR1469;NR2F2
    present in Chromosome: 15
    Position on Chromosome: 96332169
    Alleles of this Variant: C/T

rs1555446980 in MIR1469;NR2F2 gene and Dysmorphic features PMID 21172461 2011 5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects.

PMID 16251273 2005 Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia.

PMID 15750894 2005 Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.

PMID 24702954 2014 Rare variants in NR2F2 cause congenital heart defects in humans.

PMID 18371933 2008 Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.

PMID 26633542 2016 Clinical application of whole-exome sequencing across clinical indications.

PMID 24702427 2015 Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia.

PMID 10215630 1999 The orphan nuclear receptor COUP-TFII is required for angiogenesis and heart development.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 18798693 2008 Identification of COUP-TFII orphan nuclear receptor as a retinoic acid-activated receptor.

rs1555446980 in MIR1469;NR2F2 gene and Multiple congenital anomalies PMID 21172461 2011 5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects.

PMID 10215630 1999 The orphan nuclear receptor COUP-TFII is required for angiogenesis and heart development.

PMID 24702427 2015 Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia.

PMID 15750894 2005 Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.

PMID 18798693 2008 Identification of COUP-TFII orphan nuclear receptor as a retinoic acid-activated receptor.

PMID 24702954 2014 Rare variants in NR2F2 cause congenital heart defects in humans.

PMID 16251273 2005 Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia.

PMID 18371933 2008 Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 26633542 2016 Clinical application of whole-exome sequencing across clinical indications.