rs141210410
|
Entrez Id: |
4522 |
Gene Symbol: |
MTHFD1 |
MTHFD1
|
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs1555336810
|
Entrez Id: |
4522 |
Gene Symbol: |
MTHFD1 |
MTHFD1
|
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.
|
21813566 |
2011 |
rs1555336810
|
Entrez Id: |
4522 |
Gene Symbol: |
MTHFD1 |
MTHFD1
|
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
|
|
0.800 |
GeneticVariation |
UNIPROT |
Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency.
|
27707659 |
2017 |
rs1555336810
|
Entrez Id: |
4522 |
Gene Symbol: |
MTHFD1 |
MTHFD1
|
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
|
25633902 |
2015 |
rs1555337681
|
Entrez Id: |
4522 |
Gene Symbol: |
MTHFD1 |
MTHFD1
|
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.
|
21813566 |
2011 |
rs1555337681
|
Entrez Id: |
4522 |
Gene Symbol: |
MTHFD1 |
MTHFD1
|
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
|
|
0.800 |
GeneticVariation |
UNIPROT |
Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency.
|
27707659 |
2017 |
rs1555337681
|
Entrez Id: |
4522 |
Gene Symbol: |
MTHFD1 |
MTHFD1
|
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
|
25633902 |
2015 |
rs370444838
|
Entrez Id: |
4522 |
Gene Symbol: |
MTHFD1 |
MTHFD1
|
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
|
25633902 |
2015 |
rs370444838
|
Entrez Id: |
4522 |
Gene Symbol: |
MTHFD1 |
MTHFD1
|
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.
|
21813566 |
2011 |
rs370444838
|
Entrez Id: |
4522 |
Gene Symbol: |
MTHFD1 |
MTHFD1
|
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
|
|
0.800 |
GeneticVariation |
UNIPROT |
Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency.
|
27707659 |
2017 |
rs1555336810
|
Entrez Id: |
4522 |
Gene Symbol: |
MTHFD1 |
MTHFD1
|
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1555336810
|
Entrez Id: |
4522 |
Gene Symbol: |
MTHFD1 |
MTHFD1
|
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency.
|
27707659 |
2017 |
rs141210410
|
Entrez Id: |
4522 |
Gene Symbol: |
MTHFD1 |
MTHFD1
|
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs141210410
|
Entrez Id: |
4522 |
Gene Symbol: |
MTHFD1 |
MTHFD1
|
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.
|
21813566 |
2011 |
rs1555337681
|
Entrez Id: |
4522 |
Gene Symbol: |
MTHFD1 |
MTHFD1
|
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
|
25633902 |
2015 |
rs370444838
|
Entrez Id: |
4522 |
Gene Symbol: |
MTHFD1 |
MTHFD1
|
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs370444838
|
Entrez Id: |
4522 |
Gene Symbol: |
MTHFD1 |
MTHFD1
|
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
|
25633902 |
2015 |
rs760889414
|
Entrez Id: |
4522 |
Gene Symbol: |
MTHFD1 |
MTHFD1
|
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
|
T |
0.700 |
CausalMutation |
CLINVAR |
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
|
25633902 |
2015 |