Annotation Detail
Information
- Associated Genes
- G6PC1
- Associated Variants
-
G6PC1 p.Arg83His (p.R83H)
(
ENST00000592383.5,
ENST00000253801.7,
ENST00000585489.1 )
G6PC1 p.Arg170Ter (p.R170*) ( ENST00000253801.7, ENST00000592383.5, ENST00000585489.1 )
G6PC1 p.Arg83His (p.R83H) ( ENST00000592383.5, ENST00000253801.7, ENST00000585489.1 )
G6PC1 p.Arg170Ter (p.R170*) ( ENST00000253801.7, ENST00000585489.1, ENST00000592383.5 ) - Associated Disease
- Glycogen Storage Disease Type I
- Source Database
- DisGeNET
- Description
- Our findings suggest that a screening for the g727t, R170X, and R83H mutations by simple DNA-based diagnostic methods can detect 95% of the G6Pase mutant alleles in Japanese patients with GSD-Ia, and remaining mutations can be identified and characterized by the direct sequencing of genomic DNA and/or the analysis of ectopically expressed mRNA.
- Pubmed
- 10748407
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.45486328961596
- Year of publication
- 2000
Drugs