rs727503963
|
|
HMG CoA lyase deficiency
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Modeling of a mutation responsible for human 3-hydroxy-3-methylglutaryl-CoA lyase deficiency implicates histidine 233 as an active site residue.
|
8798725 |
1996 |
rs727503963
|
|
HMG CoA lyase deficiency
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
|
19177531 |
2009 |
rs727503963
|
|
HMG CoA lyase deficiency
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria.
|
14518825 |
2003 |
rs727503963
|
|
HMG CoA lyase deficiency
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3-methylglutaric aciduria in a French patient.
|
9784232 |
1998 |
rs890995574
|
|
HMG CoA lyase deficiency
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene.
|
11461194 |
2001 |
rs770225915
|
|
HMG CoA lyase deficiency
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.
|
9463337 |
1998 |
rs765198174
|
|
HMG CoA lyase deficiency
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs752137615
|
|
HMG CoA lyase deficiency
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency.
|
8440722 |
1993 |
rs200189529
|
|
HMG CoA lyase deficiency
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1553133042
|
|
HMG CoA lyase deficiency
|
CG |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1553132520
|
|
HMG CoA lyase deficiency
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1553131955
|
|
HMG CoA lyase deficiency
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1425615804
|
|
HMG CoA lyase deficiency
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1324641233
|
|
HMG CoA lyase deficiency
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1302190999
|
|
HMG CoA lyase deficiency
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1184002840
|
|
HMG CoA lyase deficiency
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs112508527
|
|
HMG CoA lyase deficiency
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs112508527
|
|
HMG CoA lyase deficiency
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs727503963
|
|
HMG CoA lyase deficiency
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3-methylglutaric aciduria in a French patient.
|
9784232 |
1998 |
rs727503963
|
|
HMG CoA lyase deficiency
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
|
19177531 |
2009 |
rs727503963
|
|
HMG CoA lyase deficiency
|
C |
0.800 |
CausalMutation
|
CLINVAR |
A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients.
|
9439591 |
1998 |
rs727503963
|
|
HMG CoA lyase deficiency
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Molecular genetics of HMG-CoA lyase deficiency.
|
17692550 |
2007 |
rs727503963
|
|
HMG CoA lyase deficiency
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Modeling of a mutation responsible for human 3-hydroxy-3-methylglutaryl-CoA lyase deficiency implicates histidine 233 as an active site residue.
|
8798725 |
1996 |
rs727503963
|
|
HMG CoA lyase deficiency
|
C |
0.800 |
CausalMutation
|
CLINVAR |
The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency.
|
15308132 |
2004 |
rs727503963
|
|
HMG CoA lyase deficiency
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria.
|
14518825 |
2003 |