rs121908888
×
Entrez Id:
6584
Gene Symbol:
SLC22A5
SLC22A5
Renal carnitine transport defect
0.800
GeneticVariation
UNIPROT
Functional and molecular studies in primary carnitine deficiency.
28841266
2017
rs121908888
×
Entrez Id:
6584
Gene Symbol:
SLC22A5
SLC22A5
Renal carnitine transport defect
0.800
GeneticVariation
UNIPROT
Genotype-phenotype correlation in primary carnitine deficiency.
21922592
2012
rs121908888
×
Entrez Id:
6584
Gene Symbol:
SLC22A5
SLC22A5
Renal carnitine transport defect
0.800
GeneticVariation
UNIPROT
Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.
20074989
2010
rs121908888
×
Entrez Id:
6584
Gene Symbol:
SLC22A5
SLC22A5
Renal carnitine transport defect
0.800
GeneticVariation
UNIPROT
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
20574985
2010
rs121908888
×
Entrez Id:
6584
Gene Symbol:
SLC22A5
SLC22A5
Renal carnitine transport defect
0.800
GeneticVariation
UNIPROT
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.
20027113
2010
rs121908888
×
Entrez Id:
6584
Gene Symbol:
SLC22A5
SLC22A5
Renal carnitine transport defect
0.800
GeneticVariation
UNIPROT
Expanded newborn screening identifies maternal primary carnitine deficiency.
17126586
2007
rs121908888
×
Entrez Id:
6584
Gene Symbol:
SLC22A5
SLC22A5
Renal carnitine transport defect
0.800
GeneticVariation
UNIPROT
Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5).
16931768
2006
rs121908888
×
Entrez Id:
6584
Gene Symbol:
SLC22A5
SLC22A5
Renal carnitine transport defect
0.800
GeneticVariation
UNIPROT
Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.
15714519
2005
rs121908888
×
Entrez Id:
6584
Gene Symbol:
SLC22A5
SLC22A5
Renal carnitine transport defect
0.800
GeneticVariation
UNIPROT
Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.
15617188
2004
rs121908888
×
Entrez Id:
6584
Gene Symbol:
SLC22A5
SLC22A5
Renal carnitine transport defect
0.800
GeneticVariation
UNIPROT
Phenotype and genotype variation in primary carnitine deficiency.
11715001
2002
rs121908888
×
Entrez Id:
6584
Gene Symbol:
SLC22A5
SLC22A5
Renal carnitine transport defect
0.800
GeneticVariation
UNIPROT
A missense mutation in the OCTN2 gene associated with residual carnitine transport activity.
10679939
2000
rs121908888
×
Entrez Id:
6584
Gene Symbol:
SLC22A5
SLC22A5
Renal carnitine transport defect
0.800
GeneticVariation
UNIPROT
Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.
11058897
2000
rs121908888
×
Entrez Id:
6584
Gene Symbol:
SLC22A5
SLC22A5
Renal carnitine transport defect
0.800
GeneticVariation
UNIPROT
Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency.
10612840
2000
rs121908888
×
Entrez Id:
6584
Gene Symbol:
SLC22A5
SLC22A5
Renal carnitine transport defect
0.800
GeneticVariation
UNIPROT
Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency.
10480371
1999
rs121908888
×
Entrez Id:
6584
Gene Symbol:
SLC22A5
SLC22A5
Renal carnitine transport defect
0.800
GeneticVariation
UNIPROT
Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency.
10545605
1999
rs121908888
×
Entrez Id:
6584
Gene Symbol:
SLC22A5
SLC22A5
Renal carnitine transport defect
G
0.800
GeneticVariation
CLINVAR
Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency.
10480371
1999
rs121908888
×
Entrez Id:
6584
Gene Symbol:
SLC22A5
SLC22A5
Renal carnitine transport defect
0.800
GeneticVariation
UNIPROT
Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality.
10425211
1999
rs121908888
×
Entrez Id:
6584
Gene Symbol:
SLC22A5
SLC22A5
Renal carnitine transport defect
0.800
GeneticVariation
UNIPROT
Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function.
10559218
1999
rs121908888
×
Entrez Id:
6584
Gene Symbol:
SLC22A5
SLC22A5
Renal carnitine transport defect
0.800
GeneticVariation
UNIPROT
Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.
10072434
1999
rs121908888
×
Entrez Id:
6584
Gene Symbol:
SLC22A5
SLC22A5
Renal carnitine transport defect
G
0.800
CausalMutation
CLINVAR