rs727503963
|
|
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
|
|
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
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Molecular genetics of HMG-CoA lyase deficiency.
|
17692550 |
2007 |
rs121964997
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population.
|
17173698 |
2006 |
rs727503963
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Crystal structure of human 3-hydroxy-3-methylglutaryl-CoA Lyase: insights into catalysis and the molecular basis for hydroxymethylglutaric aciduria.
|
16330550 |
2006 |
rs727503963
|
|
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
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria.
|
14518825 |
2003 |
rs727503963
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria.
|
14518825 |
2003 |
rs121964997
|
|
T |
0.800 |
CausalMutation |
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 |
rs727503963
|
|
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
|
|
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
|
|
C |
0.800 |
CausalMutation |
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 |
rs727503963
|
|
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 |
rs727503963
|
|
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
|
|
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 |
rs121964998
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1212444447
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.
|
28583327 |
2017 |
rs1409716731
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.
|
28583327 |
2017 |
rs763494292
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.
|
28583327 |
2017 |
rs763494292
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency.
|
23465862 |
2013 |
rs764264834
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency.
|
23465862 |
2013 |
rs763494292
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
|
19177531 |
2009 |
rs786205431
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
|
19177531 |
2009 |
rs786205431
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population.
|
17173698 |
2006 |
rs763494292
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM barrel model of HL.
|
15752612 |
2005 |