Annotation Detail
Information
- Associated Genes
- NLRP2
- Associated Variants
-
NBN p.Glu185Gln (p.E185Q)
(
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 )
NBN p.Glu185Gln (p.E185Q) ( 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
- Malignant neoplasm of breast
- Source Database
- DisGeNET
- Description
- The NBS1 Glu185Gln (NBS1 E185Q, NBS1 8360G>C, rs1805794) polymorphism has been indicated to be involved in the development of cancer, but results of previous individual studies on the association between NBS1 Glu185Gln polymorphism and breast cancer risk remain controversial and inconclusive.
- Pubmed
- 23381647
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0078718142903288
- Year of publication
- 2013
Drugs