Annotation Detail

Information

Associated Genes: NT5C2
Associated Variants: NT5C2 p.Arg246Trp (p.R246W) ( ENST00000676428.1, ENST00000343289.9, ENST00000675985.1, ENST00000674696.1, ENST00000674860.1, ENST00000675326.1, ENST00000675645.1, ENST00000404739.8, ENST00000676449.1 )
NT5C2 p.Arg246Trp (p.R246W) ( ENST00000675985.1, ENST00000343289.9, ENST00000404739.8, ENST00000674696.1, ENST00000674860.1, ENST00000675326.1, ENST00000675645.1, ENST00000676428.1, ENST00000676449.1 )
Associated Disease: childhood acute lymphocytic leukemia
Source Database: CIViC Evidence
Description: Overexpression of NT5C2 R238W in Reh cells resulted in no change in response to cytarabine, gemcitabine, doxorubicin or prednisolone versus wildtype or GFP controls as indicated by similar apoptosis.
Variant Origin: somatic
Variant Origin: Somatic
Evidence URL: https://civic.genome.wustl.edu/links/evidence_items/7816
Gene URL: https://civic.genome.wustl.edu/links/genes/9189
Variant URL: https://civic.genome.wustl.edu/links/variants/2896
Rating: 4
Evidence Type: Predictive
Disease: Childhood Acute Lymphocytic Leukemia
Evidence Direction: Does Not Support
Drug: Gemcitabine,Prednisolone,Cytarabine,Doxorubicin
Evidence Level: D
Clinical Significance: Resistance
Pubmed: 23377183

Drugs