Annotation Detail
Information
- Associated Genes
- ARG1
- Associated Variants
-
ARG1 p.Arg21Ter (p.R21*)
(
ENST00000356962.2,
ENST00000368087.8,
ENST00000672233.1,
ENST00000673427.1,
ENST00000354577.8 )
ARG1 p.Arg21Ter (p.R21*) ( ENST00000356962.2, ENST00000368087.8, ENST00000672233.1, ENST00000673427.1, ENST00000354577.8 ) - Associated Disease
- hyperargininemia
- Source Database
- DisGeNET
- Description
- Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia.
- Pubmed
- 10502833
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.563257302464964
- Year of publication
- 1999
Drugs