Annotation Detail
Information
- Associated Genes
- NBN
- Associated Variants
-
NBN p.Arg215Trp (p.R215W)
(
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.Arg215Gly (p.R215G) ( 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.Arg215Trp (p.R215W) ( 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.Arg215Gly (p.R215G) ( 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
- Nijmegen breakage syndrome
- Source Database
- DisGeNET
- Description
- Functional deficiency of NBN, the Nijmegen breakage syndrome protein, in a p.R215W mutant breast cancer cell line.
- Pubmed
- 24928521
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.495682766819709
- Year of publication
- 2014
Drugs