|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
C |
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
|
25763512 |
2015 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
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 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site.
|
9882619 |
1999 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
|
21228398 |
2011 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency.
|
26215884 |
2015 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.
|
11486912 |
2001 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Dissection of biochemical borderline phenotypes in carriers and genetic variants of medium-chain acyl-CoA dehyrogenase deficiency: implications for newborn screening [corrected].
|
19780764 |
2009 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme.
|
7730333 |
1995 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency.
|
24623196 |
2014 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
GeneticVariation
|
UNIPROT |
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 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Four groups were studied: (1) 35 children, aged 4 days to 16.2 years, with proven MCAD deficiency (mostly homozygous for the A985G mutation, none receiving carnitine supplements); (2) 2168 control children; (3) 482 neonates; and (4) 15 MCAD heterozygotes.
|
9797589 |
1998 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Frequency of the G985 MCAD mutation in the general population.
|
1671131 |
1991 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants.
|
23028790 |
2012 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants.
|
24966162 |
2014 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
High 985A-->G carrier frequencies in populations of European descent and the usual avoidance of recurrent disease episodes by patients diagnosed with MCAD deficiency who comply with a simple dietary treatment suggest that MCAD deficiency is a candidate in prospective screening of newborns.
|
11349232 |
2001 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
GeneticVariation
|
UNIPROT |
High 985A-->G carrier frequencies in populations of European descent and the usual avoidance of recurrent disease episodes by patients diagnosed with MCAD deficiency who comply with a simple dietary treatment suggest that MCAD deficiency is a candidate in prospective screening of newborns.
|
11349232 |
2001 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Hypoketotic hypoglycemia with myolysis and hypoparathyroidism: an unusual association in medium chain acyl-CoA desydrogenase deficiency (MCADD).
|
20333879 |
2009 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
|
2393404 |
1990 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
|
2393404 |
1990 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
|
10767181 |
2000 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
In mass-screened newborn populations, the 985A>G (K329E) mutation accounts for 54-90% of disease alleles, with homozygotes representing about 47-80% of MCAD deficiency cases.
|
16763904 |
2007 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes.
|
23509891 |
2013 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.
|
20036593 |
2010 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.
|
7603790 |
1995 |