Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
dbSNP | rs1801133 | Polymorphism | p.ALA222VAL | N/A |
Swiss-Prot | VAR_004323 | Disease | p.ARG325CYS | Methylenetetrahydrofolate reductase deficiency (MTHFRD) |
Swiss-Prot | VAR_004324 | Disease | p.ARG335CYS | Methylenetetrahydrofolate reductase deficiency (MTHFRD) |
Swiss-Prot | VAR_004325 | Disease | p.ARG357CYS | Methylenetetrahydrofolate reductase deficiency (MTHFRD) |
Swiss-Prot | VAR_009534 | Disease | p.ARG377CYS | Methylenetetrahydrofolate reductase deficiency (MTHFRD) |
Swiss-Prot | VAR_018858 | Polymorphism | p.ARG519CYS | N/A |
Swiss-Prot | VAR_004320 | Disease | p.ARG157GLN | Methylenetetrahydrofolate reductase deficiency (MTHFRD) |
Swiss-Prot | VAR_004319 | Disease | p.ARG52GLN | Methylenetetrahydrofolate reductase deficiency (MTHFRD) |
dbSNP | rs2274976 | Polymorphism | p.ARG594GLN | N/A |
Swiss-Prot | VAR_014881 | Polymorphism | p.ARG68GLN | N/A |
Swiss-Prot | VAR_050293 | Polymorphism | p.ARG519HIS | N/A |
Swiss-Prot | VAR_009530 | Disease | p.ARG51PRO | Methylenetetrahydrofolate reductase deficiency (MTHFRD) |
Swiss-Prot | VAR_009532 | Disease | p.ASN324SER | Methylenetetrahydrofolate reductase deficiency (MTHFRD) |
Swiss-Prot | VAR_009529 | Polymorphism | p.GLU428ALA | N/A |
dbSNP | rs1801131 | Polymorphism | p.GLU429ALA | N/A |
Swiss-Prot | VAR_054158 | Polymorphism | p.GLU470ALA | N/A |
Swiss-Prot | VAR_009537 | Disease | p.GLU586LYS | Methylenetetrahydrofolate reductase deficiency (MTHFRD) |
Swiss-Prot | VAR_018857 | Polymorphism | p.GLY422ARG | N/A |
Swiss-Prot | VAR_009535 | Disease | p.GLY387ASP | Methylenetetrahydrofolate reductase deficiency (MTHFRD) |
Swiss-Prot | VAR_050294 | Polymorphism | p.GLY566GLU | N/A |
Swiss-Prot | VAR_009531 | Disease | p.LEU323PRO | Methylenetetrahydrofolate reductase deficiency (MTHFRD) |
Swiss-Prot | VAR_004322 | Disease | p.PRO251LEU | Methylenetetrahydrofolate reductase deficiency (MTHFRD) |
Swiss-Prot | VAR_009536 | Disease | p.PRO572LEU | Methylenetetrahydrofolate reductase deficiency (MTHFRD) |
dbSNP | rs72552099 | Polymorphism | p.SER430ARG | N/A |
Swiss-Prot | VAR_004321 | Disease | p.THR227MET | Methylenetetrahydrofolate reductase deficiency (MTHFRD) |
Swiss-Prot | VAR_018860 | Polymorphism | p.THR653MET | N/A |
Swiss-Prot | VAR_009533 | Disease | p.TRP339GLY | Methylenetetrahydrofolate reductase deficiency (MTHFRD) |
OMIM | 607093.0011 | Disease | p.ARG377CYS | HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY |
OMIM | 607093.0002 | Disease | p.ARG158GLN | HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY |
OMIM | 607093.0001 | Disease | p.ARG184TER | HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY |
OMIM | 607093.0012 | Disease | p.LEU323PRO | HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY |
OMIM | 607093.0010 | Disease | p.MET581ILE | HOMOCYSTEINURIA DUE TO MTHFR DEFICIENCY |