Variant: rs1553479405 

    present in Gene: GLI2
    present in Chromosome: 2
    Position on Chromosome: 120989603
    Alleles of this Variant: C/-

rs1553479405 in GLI2 gene and Dysmorphic features PMID 21204792 2012 Clinical findings in patients with GLI2 mutations--phenotypic variability.

PMID 15994174 2005 A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2.

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

PMID 22967285 2013 Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.

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

rs1553479405 in GLI2 gene and Multiple congenital anomalies 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.

PMID 15994174 2005 A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2.

PMID 22967285 2013 Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.

PMID 21204792 2012 Clinical findings in patients with GLI2 mutations--phenotypic variability.

rs1553479405 in GLI2 gene and Muscle hypotonia PMID 22967285 2013 Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.

PMID 15994174 2005 A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2.

PMID 21204792 2012 Clinical findings in patients with GLI2 mutations--phenotypic variability.

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.