Annotation Detail
Information
- Associated Genes
- NBN
- Associated Variants
-
NBN p.Ile171Val (p.I171V)
(
ENST00000409330.5,
ENST00000265433.8,
ENST00000517337.2,
ENST00000523444.2,
ENST00000697292.1,
ENST00000697293.1,
ENST00000697298.1,
ENST00000697299.1,
ENST00000697304.1,
ENST00000697307.1,
ENST00000697308.1,
ENST00000697309.1,
ENST00000697310.1 )
NBN p.Ile171Val (p.I171V) ( ENST00000265433.8, ENST00000409330.5, ENST00000517337.2, ENST00000523444.2, ENST00000697292.1, ENST00000697293.1, ENST00000697298.1, ENST00000697299.1, ENST00000697304.1, ENST00000697307.1, ENST00000697308.1, ENST00000697309.1, ENST00000697310.1 ) - Associated Disease
- Leukemia, Lymphocytic, Acute, L1
- Source Database
- DisGeNET
- Description
- In our previous study we showed that the germline p.I171V mutation in NBN may be considered as a risk factor in the development of childhood acute lymphoblastic leukemia (ALL) and some specific haplotypes of that gene may be associated with childhood leukemia.
- Pubmed
- 24093751
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
- Year of publication
- 2013
Drugs