rs121434278
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Four compound heterozygote individuals from two unrelated families with A985G on one allele and a novel G to A mutation at nucleotide 583 (G583A) as the second mutant allele presented with MCAD deficiency in the first week of life.
|
7929823 |
1994 |
rs121434278
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
|
22975760 |
2013 |
rs121434278
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population.
|
18241067 |
2008 |
rs121434278
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
|
9158144 |
1997 |
rs121434278
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.
|
16291504 |
2006 |
rs121434278
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.
|
7603790 |
1995 |
rs121434278
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Four compound heterozygote individuals from two unrelated families with A985G on one allele and a novel G to A mutation at nucleotide 583 (G583A) as the second mutant allele presented with MCAD deficiency in the first week of life.
|
7929823 |
1994 |
rs121434278
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening.
|
25940036 |
2015 |
rs121434278
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
|
9158144 |
1997 |
rs121434278
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario.
|
21083904 |
2010 |
rs121434278
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.
|
16291504 |
2006 |
rs121434274
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants.
|
24966162 |
2014 |
rs121434274
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
MCAD deficiency in Denmark.
|
22542437 |
2012 |
rs121434274
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
|
9158144 |
1997 |
rs121434274
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening.
|
25940036 |
2015 |
rs121434274
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.
|
16291504 |
2006 |
rs121434274
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening.
|
22848008 |
2012 |
rs121434274
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants.
|
23028790 |
2012 |
rs121434274
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.
|
20036593 |
2010 |
rs121434274
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.
|
1684086 |
1991 |
rs121434274
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
|
9158144 |
1997 |
rs121434274
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.
|
23798014 |
2013 |
rs121434274
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.
|
1684086 |
1991 |
rs121434274
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.
|
20434380 |
2010 |
rs121434274
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants.
|
24966162 |
2014 |