Variant: rs1555349214 

    present in Gene: SFTA3;NKX2-1;NKX2-1-AS1
    present in Chromosome: 14
    Position on Chromosome: 36517838
    Alleles of this Variant: G/-

rs1555349214 in SFTA3;NKX2-1;NKX2-1-AS1 gene and Movement Disorders PMID 24714694 2014 Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.

PMID 23911641 2013 NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy.

PMID 24930029 2014 A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.

PMID 28677170 2017 Inactivating mutations and hypermethylation of the NKX2-1/TTF-1 gene in non-terminal respiratory unit-type lung adenocarcinomas.

PMID 26196025 2015 Benign Hereditary Chorea: An Update.

PMID 7635972 1995 Congenital human thyroglobulin defect due to low expression of the thyroid-specific transcription factor TTF-1.

PMID 22832740 2012 Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.

PMID 21292530 2011 Benign hereditary chorea: an update.

PMID 12891678 2003 Benign hereditary chorea: clinical, genetic, and pathological findings.

PMID 19336474 2009 Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.

PMID 11854319 2002 Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.

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