Variant: rs137852684

present in Gene: NKX2-5 present in Chromosome: 5 Position on Chromosome: 173233189 Alleles of this Variant: C/A;T

rs137852684 in NKX2-5 gene and HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder) PMID 16418214 2006 Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis.