Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_046507 | Disease | p.ARG183PRO | Holocarboxylase synthetase deficiency (HLCS deficiency) |
Swiss-Prot | VAR_046508 | Disease | p.ARG360SER | Holocarboxylase synthetase deficiency (HLCS deficiency) |
Swiss-Prot | VAR_013009 | Disease | p.ARG508TRP | Holocarboxylase synthetase deficiency (HLCS deficiency) |
Swiss-Prot | VAR_021219 | Disease | p.ASN511LYS | Holocarboxylase synthetase deficiency (HLCS deficiency) |
Swiss-Prot | VAR_009199 | Disease | p.ASP571ASN | Holocarboxylase synthetase deficiency (HLCS deficiency) |
Swiss-Prot | VAR_046515 | Disease | p.ASP634ASN | Holocarboxylase synthetase deficiency (HLCS deficiency) |
Swiss-Prot | VAR_046517 | Disease | p.ASP715GLY | Holocarboxylase synthetase deficiency (HLCS deficiency) |
Swiss-Prot | VAR_046514 | Disease | p.ASP615TYR | Holocarboxylase synthetase deficiency (HLCS deficiency) |
Swiss-Prot | VAR_046516 | Disease | p.ASP634TYR | Holocarboxylase synthetase deficiency (HLCS deficiency) |
Swiss-Prot | VAR_035800 | Polymorphism | p.GLU42ASP | N/A |
Swiss-Prot | VAR_021220 | Disease | p.GLY582ARG | Holocarboxylase synthetase deficiency (HLCS deficiency) |
Swiss-Prot | VAR_046512 | Disease | p.GLY518GLU | Holocarboxylase synthetase deficiency (HLCS deficiency) |
Swiss-Prot | VAR_009200 | Disease | p.GLY581SER | Holocarboxylase synthetase deficiency (HLCS deficiency) |
Swiss-Prot | VAR_021218 | Disease | p.LEU216ARG | Holocarboxylase synthetase deficiency (HLCS deficiency) |
Swiss-Prot | VAR_005084 | Disease | p.LEU237PRO | Holocarboxylase synthetase deficiency (HLCS deficiency) |
Swiss-Prot | VAR_046511 | Disease | p.LEU470SER | Holocarboxylase synthetase deficiency (HLCS deficiency) |
dbSNP | rs1065758 | Polymorphism | p.LYS278ASN | N/A |
dbSNP | rs1065759 | Polymorphism | p.LYS351ASN | N/A |
Swiss-Prot | VAR_009197 | Disease | p.THR462ILE | Holocarboxylase synthetase deficiency (HLCS deficiency) |
dbSNP | rs61732502 | Polymorphism | p.TYR96ASN | N/A |
Swiss-Prot | VAR_046510 | Disease | p.TYR456CYS | Holocarboxylase synthetase deficiency (HLCS deficiency) |
Swiss-Prot | VAR_046509 | Disease | p.VAL363ASP | Holocarboxylase synthetase deficiency (HLCS deficiency) |
Swiss-Prot | VAR_009196 | Disease | p.VAL333GLU | Holocarboxylase synthetase deficiency (HLCS deficiency) |
Swiss-Prot | VAR_046513 | Disease | p.VAL547GLY | Holocarboxylase synthetase deficiency (HLCS deficiency) |
Swiss-Prot | VAR_009198 | Disease | p.VAL550MET | Holocarboxylase synthetase deficiency (HLCS deficiency) |
OMIM | 609018.0004 | Disease | p.ARG508TRP | HOLOCARBOXYLASE SYNTHETASE DEFICIENCY |
OMIM | 609018.0003 | Disease | p.ASP571ASN | HOLOCARBOXYLASE SYNTHETASE DEFICIENCY |
OMIM | 609018.0005 | Disease | p.GLY581SER | HOLOCARBOXYLASE SYNTHETASE DEFICIENCY |
OMIM | 609018.0009 | Disease | p.LEU216ARG | HOLOCARBOXYLASE SYNTHETASE DEFICIENCY |
OMIM | 609018.0002 | Disease | p.LEU237PRO | HOLOCARBOXYLASE SYNTHETASE DEFICIENCY |
OMIM | 609018.0006 | Disease | p.VAL550MET | HOLOCARBOXYLASE SYNTHETASE DEFICIENCY |