Annotation Detail
Information
- Associated Genes
- NT5C2
- Associated Variants
-
NT5C2 p.Lys367Gln (p.K367Q)
(
ENST00000343289.9,
ENST00000675645.1,
ENST00000676449.1,
ENST00000675985.1,
ENST00000674696.1,
ENST00000674860.1,
ENST00000675326.1,
ENST00000676428.1,
ENST00000404739.8 )
NT5C2 p.Lys367Gln (p.K367Q) ( ENST00000343289.9, ENST00000404739.8, ENST00000674696.1, ENST00000674860.1, ENST00000675326.1, ENST00000675645.1, ENST00000675985.1, ENST00000676428.1, ENST00000676449.1 ) - Associated Disease
- acute lymphoblastic leukemia
- Source Database
- CIViC Evidence
- Description
- The K359Q somatic mutation was significantly correlated with early disease recurrence and relapse in 103 T-cell ALL regardless of treatment course. The data was obtained from Berlin Frankfurt Münster Clinical Trials.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/667
- Gene URL
- https://civic.genome.wustl.edu/links/genes/9189
- Variant URL
- https://civic.genome.wustl.edu/links/variants/239
- Rating
- 4
- Evidence Type
- Prognostic
- Disease
- Acute Lymphoblastic Leukemia
- Evidence Direction
- Supports
- Evidence Level
- B
- Clinical Significance
- Poor Outcome
- Pubmed
- 23377281
Drugs