rs137852886
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs137852886
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
|
15452297 |
2004 |
rs137852886
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.
|
10545044 |
1999 |
rs137852886
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
|
25665141 |
2015 |
rs137852886
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
|
8613547 |
1996 |
rs137852886
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
|
8613547 |
1996 |
rs137852887
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
|
8613547 |
1996 |
rs137852887
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs137852887
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.
|
10545044 |
1999 |
rs137852887
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
|
15452297 |
2004 |
rs137852889
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.
|
10545044 |
1999 |
rs137852889
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs137852889
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
|
8613547 |
1996 |
rs137852889
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
|
15452297 |
2004 |
rs137852888
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs137852888
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Additional molecular genetic analyses confirmed glycogen storage disease Type IV with the finding of compound heterozygosity for 2 mutations (c.691+2T>C and c.1570C>T, p.R524X) in the GBE1 gene.
|
26166723 |
2016 |
rs80338671
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways.
|
20655781 |
2011 |
rs80338671
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Progress and problems in muscle glycogenoses.
|
22106711 |
2011 |
rs80338671
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
|
26199317 |
2015 |
rs80338671
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.
|
23034915 |
2012 |
rs80338671
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
The Y329S allele was also detected in another patient with the nonprogressive form of GSD-IV but not in 35 unrelated controls or in patients with the more severe forms of GSD-IV.
|
8613547 |
1996 |
rs80338671
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The Y329S allele was also detected in another patient with the nonprogressive form of GSD-IV but not in 35 unrelated controls or in patients with the more severe forms of GSD-IV.
|
8613547 |
1996 |
rs80338671
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
|
25665141 |
2015 |
rs80338671
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
|
26199317 |
2015 |
rs80338671
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene.
|
9851430 |
1998 |