rs151340616
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553684897
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
TA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553686314
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553686321
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs28934589
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient.
|
12859414 |
2003 |
rs28934589
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs28934589
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation.
|
15057979 |
2004 |
rs28934589
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
|
15365988 |
2004 |
rs541208710
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
C |
0.700 |
CausalMutation |
CLINVAR |
SSIEM 2015 Annual Symposium : Lyon, France, August 2015.
|
26238931 |
2015 |
rs541208710
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
C |
0.700 |
CausalMutation |
CLINVAR |
Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response.
|
25459972 |
2015 |
rs541208710
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
C |
0.700 |
CausalMutation |
CLINVAR |
Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency.
|
10697964 |
2000 |
rs541208710
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
C |
0.700 |
CausalMutation |
CLINVAR |
Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest.
|
17277394 |
2007 |
rs541208710
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
C |
0.700 |
CausalMutation |
CLINVAR |
Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.
|
27066551 |
2015 |
rs541208710
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
C |
0.700 |
CausalMutation |
CLINVAR |
Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.
|
24088670 |
2013 |
rs541208710
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency.
|
12559850 |
2003 |
rs541208710
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
C |
0.700 |
CausalMutation |
CLINVAR |
Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency.
|
11592821 |
2001 |
rs577331691
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
|
0.700 |
GeneticVariation |
UNIPROT |
A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient.
|
12859414 |
2003 |
rs577331691
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
|
0.700 |
GeneticVariation |
UNIPROT |
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
|
15365988 |
2004 |
rs577331691
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
|
0.700 |
GeneticVariation |
UNIPROT |
Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation.
|
15057979 |
2004 |
rs587776759
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
TG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587776760
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587777286
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587777287
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs745490594
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
|
0.010 |
GeneticVariation |
BEFREE |
Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review.
|
29137068 |
2017 |
rs746361528
|
SLC25A20
|
Traumatic rhabdomyolysis
|
|
0.010 |
GeneticVariation |
BEFREE |
We also found that one patient with non-traumatic rhabdomyolysis and one healthy individual were heterozygous for c.804delG and the synonymous mutation c.516T>C, respectively.
|
24088670 |
2013 |