Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_006466 | Polymorphism | p.ALA117VAL | N/A |
Swiss-Prot | VAR_006474 | Disease | p.ARG208HIS | Creutzfeldt-Jakob disease (CJD) |
dbSNP | rs16990018 | Polymorphism | p.ASN171SER | N/A |
Swiss-Prot | VAR_006469 | Disease | p.ASP178ASN | Fatal familial insomnia (FFI) |
Swiss-Prot | VAR_008750 | Disease | p.ASP202ASN | Gerstmann-Straussler disease (GSD) |
Swiss-Prot | VAR_006476 | Disease | p.GLN217ARG | Gerstmann-Straussler disease (GSD) |
Swiss-Prot | VAR_008753 | Disease | p.GLN212PRO | Gerstmann-Straussler disease (GSD) |
Swiss-Prot | VAR_008752 | Disease | p.GLU211GLN | Creutzfeldt-Jakob disease (CJD) |
Swiss-Prot | VAR_008749 | Disease | p.GLU196LYS | Creutzfeldt-Jakob disease (CJD) |
Swiss-Prot | VAR_006473 | Disease | p.GLU200LYS | Creutzfeldt-Jakob disease (CJD) |
Swiss-Prot | VAR_006477 | Polymorphism | p.GLU219LYS | N/A |
Swiss-Prot | VAR_014264 | Disease | p.GLY131VAL | Gerstmann-Straussler disease (GSD) |
Swiss-Prot | VAR_008746 | Disease | p.HIS187ARG | Gerstmann-Straussler disease (GSD) |
Swiss-Prot | VAR_006478 | Disease | p.MET232ARG | Creutzfeldt-Jakob disease (CJD) |
Swiss-Prot | VAR_006467 | Polymorphism | p.MET129VAL | N/A |
Swiss-Prot | VAR_006472 | Disease | p.PHE198SER | Gerstmann-Straussler disease (GSD) |
Swiss-Prot | VAR_006464 | Disease | p.PRO102LEU | Gerstmann-Straussler disease (GSD) |
Swiss-Prot | VAR_006465 | Disease | p.PRO105LEU | Gerstmann-Straussler disease (GSD) |
Swiss-Prot | VAR_008754 | Polymorphism | p.PRO238SER | N/A |
Swiss-Prot | VAR_006471 | Polymorphism | p.THR183ALA | N/A |
Swiss-Prot | VAR_008747 | Polymorphism | p.THR188ARG | N/A |
Swiss-Prot | VAR_008748 | Polymorphism | p.THR188LYS | N/A |
Swiss-Prot | VAR_006470 | Disease | p.VAL180ILE | Creutzfeldt-Jakob disease (CJD) |
Swiss-Prot | VAR_008751 | Disease | p.VAL203ILE | Creutzfeldt-Jakob disease (CJD) |
Swiss-Prot | VAR_006475 | Disease | p.VAL210ILE | Creutzfeldt-Jakob disease (CJD) |
OMIM | 176640.0004 | Disease | p.ALA117VAL | GERSTMANN-STRAUSSLER DISEASE |
OMIM | 176640.0026 | Disease | p.ALA133VAL | GERSTMANN-STRAUSSLER DISEASE |
OMIM | 176640.0023 | Disease | p.ARG208HIS | CREUTZFELDT-JAKOB DISEASE |
OMIM | 176640.0018 | Disease | p.ASN171SER | RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE |
OMIM | 176640.0007 176640.0010 | Disease | p.ASP178ASN | FATAL FAMILIAL INSOMNIA||CREUTZFELDT-JAKOB DISEASE, INCLUDED |
OMIM | 176640.0012 | Disease | p.GLN217ARG | GERSTMANN-STRAUSSLER DISEASE |
OMIM | 176640.0032 | Disease | p.GLN160TER | CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED |
OMIM | 176640.0034 | Disease | p.GLN227TER | GERSTMANN-STRAUSSLER DISEASE |
OMIM | 176640.0029 | Disease | p.GLU211ASP | GERSTMANN-STRAUSSLER DISEASE |
OMIM | 176640.0030 | Disease | p.GLU211GLN | CREUTZFELDT-JAKOB DISEASE |
OMIM | 176640.0006 | Disease | p.GLU200LYS | CREUTZFELDT-JAKOB DISEASE||FATAL FAMILIAL INSOMNIA, INCLUDED |
OMIM | 176640.0019 | Disease | p.GLU219LYS | RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE |
OMIM | 176640.0028 | Disease | p.GLY127VAL | KURU, PROTECTION AGAINST |
OMIM | 176640.0021 | Disease | p.GLY131VAL | GERSTMANN-STRAUSSLER DISEASE |
OMIM | 176640.0024 | Disease | p.HIS187ARG | GERSTMANN-STRAUSSLER DISEASE||SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES, INCLUDED |
OMIM | 176640.0017 | Disease | p.MET232ARG | RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE |
OMIM | 176640.0005 176640.0007 | Disease | p.MET129VAL | CREUTZFELDT-JAKOB DISEASE||FATAL FAMILIAL INSOMNIA, INCLUDED |
OMIM | 176640.0011 | Disease | p.PHE198SER | GERSTMANN-STRAUSSLER DISEASE |
OMIM | 176640.0002 | Disease | p.PRO102LEU | GERSTMANN-STRAUSSLER DISEASE |
OMIM | 176640.0015 | Disease | p.PRO105LEU | GERSTMANN-STRAUSSLER DISEASE |
OMIM | 176640.0027 | Disease | p.PRO105SER | GERSTMANN-STRAUSSLER DISEASE |
OMIM | 176640.0025 | Disease | p.PRO105THR | SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES |
OMIM | 176640.0022 | Disease | p.THR183ALA | SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES |
OMIM | 176640.0031 | Disease | p.TYR145TER | CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED |
OMIM | 176640.0035 | Disease | p.TYR163TER | CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED |
OMIM | 176640.0033 | Disease | p.TYR226TER | CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED |
OMIM | 176640.0016 | Disease | p.VAL180ILE | CREUTZFELDT-JAKOB DISEASE |
OMIM | 176640.0014 | Disease | p.VAL210ILE | CREUTZFELDT-JAKOB DISEASE |