Variant: rs1558937172 

    present in Gene: GLI2
    present in Chromosome: 2
    Position on Chromosome: 120984744
    Alleles of this Variant: G/A

rs1558937172 in GLI2 gene and CULLER-JONES SYNDROME PMID 14581620 2003 Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.

PMID 20685856 2010 Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.

rs1558937172 in GLI2 gene and PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder) PMID 20685856 2010 Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.

PMID 14581620 2003 Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.