Annotation Detail

Information
Associated Genes
ARG1
Associated Variants
ARG1 p.Ile11Thr (p.I11T) ( ENST00000368087.8, ENST00000672233.1, ENST00000673427.1, ENST00000356962.2 )
ARG1 c.57+1G>A ( ENST00000356962.2, ENST00000368087.8, ENST00000672233.1, ENST00000673427.1 )
ARG1 p.Ile11Thr (p.I11T) ( ENST00000356962.2, ENST00000368087.8, ENST00000672233.1, ENST00000673427.1 )
ARG1 c.57+1G>A ( ENST00000356962.2, ENST00000368087.8, ENST00000672233.1, ENST00000673427.1 )
Associated Disease
hyperargininemia
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.563257302464964
Year of publication
NA
Drugs