Annotation Detail
Information
- Associated Genes
- RAG2
- Associated Variants
-
RAG2 p.Glu437Lys (p.E437K)
(
ENST00000311485.8,
ENST00000527033.6,
ENST00000532616.2,
ENST00000529083.2 )
RAG2 p.Met110Val (p.M110V) ( ENST00000527033.6, ENST00000311485.8, ENST00000529083.2, ENST00000532616.2 )
RAG2 p.Met110Leu (p.M110L) ( ENST00000311485.8, ENST00000527033.6, ENST00000532616.2, ENST00000529083.2 )
RAG2 p.Arg73Cys (p.R73C) ( ENST00000311485.8, ENST00000527033.6, ENST00000532616.2, ENST00000529083.2 )
RAG2 p.Gly35Ala (p.G35A) ( ENST00000532616.2, ENST00000529083.2, ENST00000311485.8, ENST00000527033.6 )
RAG2 p.Glu437Lys (p.E437K) ( ENST00000311485.8, ENST00000527033.6, ENST00000529083.2, ENST00000532616.2 )
RAG2 p.Met110Val (p.M110V) ( ENST00000311485.8, ENST00000527033.6, ENST00000529083.2, ENST00000532616.2 )
RAG2 p.Met110Leu (p.M110L) ( ENST00000311485.8, ENST00000527033.6, ENST00000529083.2, ENST00000532616.2 )
RAG2 p.Arg73Cys (p.R73C) ( ENST00000311485.8, ENST00000527033.6, ENST00000529083.2, ENST00000532616.2 )
RAG2 p.Gly35Ala (p.G35A) ( ENST00000311485.8, ENST00000527033.6, ENST00000529083.2, ENST00000532616.2 ) - Associated Disease
- severe combined immunodeficiency
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.138607393998292
- Year of publication
- NA
Drugs