Variant: rs104893755 

    present in Gene: POU1F1
    present in Chromosome: 3
    Position on Chromosome: 87259959
    Alleles of this Variant: G/A

rs104893755 in POU1F1 gene and Pituitary Hormone Deficiency, Combined, 1 PMID 9626142 1998 Pro239Ser: a novel recessive mutation of the Pit-1 gene in seven Middle Eastern children with growth hormone, prolactin, and thyrotropin deficiency.

PMID 9485179 1998 Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 gene.

PMID 7852536 1995 "A ""hot spot"" in the Pit-1 gene responsible for combined pituitary hormone deficiency: clinical and molecular correlates."

PMID 11297581 2001 Combined pituitary hormone deficiency caused by compound heterozygosity for two novel mutations in the POU domain of the Pit1/POU1F1 gene.

PMID 1509263 1992 Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia.

PMID 26612202 2016 Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.

PMID 8768831 1996 A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency.

PMID 22010633 2012 Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency.

PMID 1509262 1992 A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency.

PMID 15928241 2005 Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.

PMID 16968807 2006 Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency.

PMID 1472057 1992 Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency.