Variant: rs1555868362 

    present in Gene: GNAS;GNAS-AS1
    present in Chromosome: 20
    Position on Chromosome: 58840368
    Alleles of this Variant: -/A

rs1555868362 in GNAS;GNAS-AS1 gene and Dysmorphic features PMID 23281139 2013 Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.

PMID 23884777 2013 Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.

PMID 25802881 2015 A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene.

PMID 17161328 2006 Mutations in the Gs alpha gene causing hormone resistance.

PMID 18796523 2008 Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state.

PMID 27431290 2017 Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.

PMID 14561710 2003 Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.

PMID 11600516 2001 Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.

PMID 8383205 1993 Imprinting in Albright's hereditary osteodystrophy.

PMID 10980525 2000 Activating and inactivating mutations in the human GNAS1 gene.