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 |
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 |
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 |
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 |
Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency.
|
12559850 |
2003 |
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 |
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 |
rs7623023
|
SLC25A20
|
Colorectal Carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
Statistically significant interactions were found between intake of red and processed meat and <i>CCAT2</i> rs6983267, <i>TP53</i> rs1042522, <i>LPCAT1</i> rs7737692, <i>SLC25A20</i> rs7623023 (<i>p</i><sub>interaction</sub> = 0.04, 0.04, 0.02, 0.03, respectively), and the use of NSAID and alcohol intake and <i>TP53</i> rs1042522 (<i>p</i><sub>interaction</sub> = 0.04, 0.04, respectively) in relation to the risk of CRC.
|
30841568 |
2019 |