Variant: rs121913495 

    present in Gene: GNAS
    present in Chromosome: 20
    Position on Chromosome: 58909366
    Alleles of this Variant: G/A;T

rs121913495 in GNAS gene and Acth-Independent Macronodular Adrenal Hyperplasia PMID 12727968 2003 Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene.

rs121913495 in GNAS gene and Adenocarcinoma of lung (disorder) PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121913495 in GNAS gene and Adenocarcinoma of pancreas PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121913495 in GNAS gene and Adrenocortical carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121913495 in GNAS gene and Colorectal Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121913495 in GNAS gene and Cutaneous Melanoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121913495 in GNAS gene and Gastric Adenocarcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121913495 in GNAS gene and Liver carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121913495 in GNAS gene and Mammary Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121913495 in GNAS gene and McCune-Albright Syndrome PMID 1944469 1991 Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.

PMID 23536913 2013 Quantitative and sensitive detection of GNAS mutations causing mccune-albright syndrome with next generation sequencing.

PMID 7751320 1995 Overexpression of Gs alpha subunit in thyroid tumors bearing a mutated Gs alpha gene.

PMID 1594625 1992 Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.

PMID 10571700 1999 A novel GNAS1 mutation, R201G, in McCune-albright syndrome.

PMID 15126527 2004 Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study.

rs121913495 in GNAS gene and Neoplasms PMID 21835143 2012 GNAS-activating mutations define a rare subgroup of inflammatory liver tumors characterized by STAT3 activation.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs121913495 in GNAS gene and Squamous cell carcinoma of the head and neck PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121913495 in GNAS gene and Uterine Cervical Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.