Annotation Detail
Information
- Associated Genes
- GNAS
- Associated Variants
-
GNAS p.Leu131= (p.L131=)
(
ENST00000306090.12,
ENST00000306120.4,
ENST00000313949.11,
ENST00000349036.9,
ENST00000371075.7,
ENST00000371098.6,
ENST00000371100.9,
ENST00000371102.8,
ENST00000419558.7,
ENST00000423897.7,
ENST00000453292.7,
ENST00000462499.6,
ENST00000467227.6,
ENST00000472183.6,
ENST00000482112.6,
ENST00000491348.5,
ENST00000493744.5,
ENST00000657090.1,
ENST00000663479.2,
ENST00000676826.2 )
GNAS p.Leu131= (p.L131=) ( ENST00000306090.12, ENST00000306120.4, ENST00000313949.11, ENST00000349036.9, ENST00000371075.7, ENST00000371098.6, ENST00000371100.9, ENST00000371102.8, ENST00000419558.7, ENST00000423897.7, ENST00000453292.7, ENST00000462499.6, ENST00000467227.6, ENST00000472183.6, ENST00000482112.6, ENST00000491348.5, ENST00000493744.5, ENST00000657090.1, ENST00000663479.2, ENST00000676826.2 ) - Associated Disease
- intrahepatic cholangiocarcinoma
- Source Database
- CIViC Evidence
- Description
- Intrahepatic cholangiocarcinomas of patients with homozygous TT genotypes revealed a higher proliferation rate and a lower apoptotic rate.This study demonstrated a significant association of both disease-specific OS and recurrence-free survival with the homozygous TT genotype of the GNAS1 gene (hazard ratio = 2.47; 95% CI = 1.03–7.28). Patients with T393 homozygosity exhibit a decreased survival time regardless of their resection status and show earlier tumor recurrence.
- Variant Origin
- Common Germline
- Variant Origin
- Common Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1996
- Gene URL
- https://civic.genome.wustl.edu/links/genes/2319
- Variant URL
- https://civic.genome.wustl.edu/links/variants/877
- Rating
- 3
- Evidence Type
- Prognostic
- Disease
- Intrahepatic Cholangiocarcinoma
- Evidence Direction
- Supports
- Evidence Level
- B
- Clinical Significance
- Poor Outcome
- Pubmed
- 17356712
Drugs