rs121434360
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.
|
16081310 |
2006 |
rs121434360
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.
|
15609246 |
2005 |
rs121434360
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.
|
16037974 |
2005 |
rs121434361
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.
|
16037974 |
2005 |
rs121434361
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.
|
16081310 |
2006 |
rs121434361
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.
|
15609246 |
2005 |
rs121434362
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.
|
16081310 |
2006 |
rs121434362
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.
|
15609246 |
2005 |
rs121434362
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.
|
16037974 |
2005 |
rs267606759
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs1559364994
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
|
20020533 |
2010 |
rs1559364994
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Co-morbidity of Sanfilippo syndrome type C and D-2-hydroxyglutaric aciduria.
|
21384162 |
2011 |
rs1559364994
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.
|
16081310 |
2006 |
rs1025426883
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The sibling with GA1 was homozygous whilst his siblings with D-2-HGA were heterozygous for a 1283 C>T missense mutation (T416I) in exon 11 of the GCDH gene.
|
15248096 |
2004 |
rs121434368
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The sibling with GA1 was homozygous whilst his siblings with D-2-HGA were heterozygous for a 1283 C>T missense mutation (T416I) in exon 11 of the GCDH gene.
|
15248096 |
2004 |
rs121913502
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To confirm the IDH2(wt/R140Q) gain-of-function in D-2-HGA type II, and to evaluate potential therapeutic strategies, we developed a specific and sensitive IDH2(wt/R140Q) enzyme assay in lymphoblasts.
|
21889589 |
2011 |
rs1277384196
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The sibling with GA1 was homozygous whilst his siblings with D-2-HGA were heterozygous for a 1283 C>T missense mutation (T416I) in exon 11 of the GCDH gene.
|
15248096 |
2004 |
rs267606870
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The recent discovery of heterozygous isocitrate dehydrogenase 2 (IDH2) mutations of residue Arg(140) to Gln(140) or Gly(140) (IDH2(wt/R140Q), IDH2(wt/R140G)) in d-2-hydroxyglutaric aciduria (D-2-HGA) has defined the primary genetic lesion in 50% of D-2-HGA patients, denoted type II.
|
21889589 |
2011 |
rs121434360
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121434361
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121434362
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs267606759
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs145731647
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1559361049
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
|
20020533 |
2010 |
rs587783517
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|