rs754980119
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
0.810
GeneticVariation
UNIPROT
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
25818041
2015
rs754980119
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
0.810
GeneticVariation
UNIPROT
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
25736335
2015
rs754980119
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
0.810
GeneticVariation
BEFREE
The diagnosis of MTHFR deficiency was confirmed based on extremely reduced fibroblast MTHFR activity (0.3 nmol CHO/mg prot/hr) as well as mutation analysis that revealed two variants in the MTHFR gene, a splice site mutation p (IVS5-1G>A), as well as a missense mutation (c.155 G>A; p. Arg52Gln ).
25079578
2014
rs754980119
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
0.810
GeneticVariation
UNIPROT
Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.
20236116
2010
rs754980119
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
0.810
GeneticVariation
UNIPROT
Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.
10679944
2000
rs754980119
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
0.810
GeneticVariation
UNIPROT
Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency.
9781030
1998
rs754980119
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
0.810
GeneticVariation
UNIPROT
Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.
8940272
1996
rs754980119
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
0.810
GeneticVariation
UNIPROT
Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.
7726158
1995
rs754980119
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
T
0.810
CausalMutation
CLINVAR
rs1801133
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
Homocysteine measurement
0.800
GeneticVariation
GWASCAT
The 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C→T (rs1801133 ) variant was the major genetic modifier of all 3 folate-related biomarkers in this Irish population and reached genome-wide significance for red blood cell folate (P = 1.37 × 10-17), serum folate (P = 2.82 × 10-11), and plasma total homocysteine (P = 1.26 × 10-19) concentrations.
30339177
2018
rs121434296
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
A
0.800
GeneticVariation
CLINVAR
Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.
27743313
2017
rs121434296
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
A
0.800
GeneticVariation
CLINVAR
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.
26872964
2016
rs121434296
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
A
0.800
GeneticVariation
CLINVAR
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
25736335
2015
rs121434296
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
0.800
GeneticVariation
UNIPROT
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
25818041
2015
rs121434296
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
0.800
GeneticVariation
UNIPROT
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
25736335
2015
rs373398993
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
0.800
GeneticVariation
UNIPROT
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
25818041
2015
rs373398993
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
0.800
GeneticVariation
UNIPROT
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
25736335
2015
rs574132670
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
0.800
GeneticVariation
UNIPROT
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
25818041
2015
rs574132670
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
0.800
GeneticVariation
UNIPROT
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
25736335
2015
rs763539350
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
0.800
GeneticVariation
UNIPROT
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
25818041
2015
rs763539350
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
0.800
GeneticVariation
UNIPROT
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
25736335
2015
rs769381688
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
0.800
GeneticVariation
UNIPROT
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
25818041
2015
rs769381688
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
0.800
GeneticVariation
UNIPROT
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
25736335
2015
rs776483190
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
0.800
GeneticVariation
UNIPROT
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
25736335
2015
rs776483190
×
Entrez Id:
4524
Gene Symbol:
MTHFR
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
0.800
GeneticVariation
UNIPROT
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
25818041
2015