Annotation Detail
Information
- Associated Genes
- G6PC1
- Associated Variants
-
G6PC1 p.Gly188Ser (p.G188S)
(
ENST00000585489.1,
ENST00000592383.5,
ENST00000253801.7 )
G6PC1 p.Gly188Arg (p.G188R) ( ENST00000253801.7, ENST00000592383.5, ENST00000585489.1 )
G6PC1 p.Gly188Ser (p.G188S) ( ENST00000253801.7, ENST00000585489.1, ENST00000592383.5 )
G6PC1 p.Gly188Arg (p.G188R) ( ENST00000253801.7, ENST00000585489.1, ENST00000592383.5 ) - Associated Disease
- glycogen storage disease
- Source Database
- DisGeNET
- Description
- Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.
- Pubmed
- 10960498
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0219307098117121
- Year of publication
- 2000
Drugs