Annotation Detail
Information
- Associated Genes
- G6PC1
- Associated Variants
-
G6PC1 p.Gln27ArgfsTer9 (p.Q27Rfs*9)
(
ENST00000253801.7,
ENST00000592383.5,
ENST00000585489.1 )
G6PC1 p.Phe327del (p.F327del) ( ENST00000253801.7, ENST00000592383.5, ENST00000585489.1 )
G6PC1 p.Gln27ArgfsTer9 (p.Q27Rfs*9) ( ENST00000253801.7, ENST00000585489.1, ENST00000592383.5 )
G6PC1 p.Phe327del (p.F327del) ( ENST00000253801.7, ENST00000585489.1, ENST00000592383.5 )
G6PC1 p.Arg83Cys (p.R83C) ( ENST00000592383.5, ENST00000253801.7, ENST00000585489.1 )
G6PC1 p.Arg83His (p.R83H) ( ENST00000592383.5, ENST00000253801.7, ENST00000585489.1 )
G6PC1 p.Gly188Ser (p.G188S) ( ENST00000585489.1, ENST00000592383.5, ENST00000253801.7 )
G6PC1 p.Gly188Arg (p.G188R) ( ENST00000253801.7, ENST00000592383.5, ENST00000585489.1 )
G6PC1 p.Leu216= (p.L216=) ( ENST00000592383.5, ENST00000253801.7, ENST00000585489.1 )
G6PC1 p.Gln242Ter (p.Q242*) ( ENST00000585489.1, ENST00000253801.7, ENST00000592383.5 )
G6PC1 p.Gly270Val (p.G270V) ( ENST00000585489.1, ENST00000253801.7, ENST00000592383.5 )
G6PC1 p.Gln347Glu (p.Q347E) ( ENST00000253801.7, ENST00000585489.1 )
G6PC1 p.Gln347Ter (p.Q347*) ( ENST00000253801.7, ENST00000585489.1 )
G6PC1 p.Arg83Cys (p.R83C) ( ENST00000253801.7, ENST00000585489.1, ENST00000592383.5 )
G6PC1 p.Arg83His (p.R83H) ( ENST00000592383.5, ENST00000253801.7, ENST00000585489.1 )
G6PC1 p.Gly188Ser (p.G188S) ( ENST00000253801.7, ENST00000585489.1, ENST00000592383.5 )
G6PC1 p.Gly188Arg (p.G188R) ( ENST00000253801.7, ENST00000585489.1, ENST00000592383.5 )
G6PC1 p.Leu216= (p.L216=) ( ENST00000253801.7, ENST00000585489.1, ENST00000592383.5 )
G6PC1 p.Gln242Ter (p.Q242*) ( ENST00000253801.7, ENST00000585489.1, ENST00000592383.5 )
G6PC1 p.Gly270Val (p.G270V) ( ENST00000253801.7, ENST00000585489.1, ENST00000592383.5 )
G6PC1 p.Gln347Glu (p.Q347E) ( ENST00000253801.7, ENST00000585489.1 )
G6PC1 p.Gln347Ter (p.Q347*) ( ENST00000253801.7, ENST00000585489.1 )
G6PC1 p.Tyr127IlefsTer4 (p.Y127Ifs*4)
G6PC1 p.Tyr127LeufsTer4 (p.Y127Lfs*4)
G6PC1 p.Tyr127IlefsTer4 (p.Y127Ifs*4)
G6PC1 p.Tyr127LeufsTer4 (p.Y127Lfs*4) - Associated Disease
- Glucose-6-phosphate transport defect
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.122714418720803
- Year of publication
- NA
Drugs