rs28934589
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
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 |
|
|
|
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 |
|
|
|
rs748394731
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs756998699
|
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 |
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 |
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 |
rs757552268
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
A |
0.700 |
CausalMutation |
CLINVAR |
A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency.
|
16919490 |
2006 |
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 |
rs757552268
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
A |
0.700 |
CausalMutation |
CLINVAR |
Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency.
|
11592821 |
2001 |
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 |
rs757552268
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
A |
0.700 |
CausalMutation |
CLINVAR |
Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature.
|
25614308 |
2015 |
rs778220325
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
A |
0.700 |
CausalMutation |
CLINVAR |
Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature.
|
25614308 |
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 |
rs757552268
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
A |
0.700 |
CausalMutation |
CLINVAR |
Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family.
|
11350184 |
2001 |
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 |
Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency.
|
10697964 |
2000 |
rs28934589
|
SLC25A20
|
Carnitine-Acylcarnitine Translocase Deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
|
15365988 |
2004 |