Variant: rs137852692 

    present in Gene: NKX2-1;NKX2-1-AS1;SFTA3
    present in Chromosome: 14
    Position on Chromosome: 36517781
    Alleles of this Variant: C/A

rs137852692 in NKX2-1;NKX2-1-AS1;SFTA3 gene and Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress PMID 11854319 2002 Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.

PMID 11854318 2002 Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice.

PMID 24714694 2014 Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.

PMID 15955952 2005 A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa.

PMID 15289765 2004 Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.