Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Tyr375Cys (p.Y375C)
(
ENST00000340107.9,
ENST00000352904.6,
ENST00000412135.7,
ENST00000440486.8,
ENST00000481110.7 )
FGFR3 p.Tyr375Cys (p.Y375C) ( ENST00000412135.7, ENST00000340107.9, ENST00000352904.6, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- bladder carcinoma
- Source Database
- CIViC Evidence
- Description
- Y375C mutation results in activation of FGFR3 and is associated with bladder carcinoma. Patients with low-grade tumors were more likely to have FGFR3 mutations than those with high-grade tumors.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/477
- Gene URL
- https://civic.genome.wustl.edu/links/genes/23
- Variant URL
- https://civic.genome.wustl.edu/links/variants/196
- Rating
- 3
- Evidence Type
- Diagnostic
- Disease
- Bladder Carcinoma
- Evidence Direction
- Supports
- Evidence Level
- B
- Clinical Significance
- Positive
- Pubmed
- 20542753
Drugs