Variant: rs121912643 

    present in Gene: LHX4-AS1;ACBD6;LHX4
    present in Chromosome: 1
    Position on Chromosome: 180271497
    Alleles of this Variant: T/G

rs121912643 in LHX4-AS1;ACBD6;LHX4 gene and PITUITARY HORMONE DEFICIENCY, COMBINED, 4 PMID 17527005 2007 A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica.

PMID 18073311 2008 Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.