rs151201155
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.
|
9600243 |
1998 |
rs1555751379
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.
|
9600243 |
1998 |
rs745360675
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.
|
9600243 |
1998 |
rs764608975
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.
|
9600243 |
1998 |
rs121434369
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
The commonest GA1 mutation in Europeans is R402W, which accounts for almost 40% of alleles in patients of German origin.
|
10699052 |
2000 |
rs121434369
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
The commonest GA1 mutation in Europeans is R402W, which accounts for almost 40% of alleles in patients of German origin.
|
10699052 |
2000 |
rs121434369
|
|
|
0.810 |
GeneticVariation |
BEFREE |
The commonest GA1 mutation in Europeans is R402W, which accounts for almost 40% of alleles in patients of German origin.
|
10699052 |
2000 |
rs121434372
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
|
14707522 |
2003 |
rs121434367
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
|
14707522 |
2003 |
rs121434368
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
|
14707522 |
2003 |
rs121434369
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
|
14707522 |
2003 |
rs150938052
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
|
14707522 |
2003 |
rs372983141
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
|
14707522 |
2003 |
rs778153326
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
|
14707522 |
2003 |
rs786204626
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
|
14707522 |
2003 |
rs1282266790
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
|
14707522 |
2003 |
rs151201155
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
|
14707522 |
2003 |
rs1555751379
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
|
14707522 |
2003 |
rs764608975
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
|
14707522 |
2003 |
rs141437721
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type I.
|
19433275 |
2009 |
rs199999619
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families.
|
11058907 |
2000 |
rs398123190
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families.
|
11058907 |
2000 |
rs121434369
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation.
|
25256449 |
2015 |
rs199999619
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation.
|
25256449 |
2015 |
rs199999619
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation.
|
25256449 |
2015 |