SLC22A5, solute carrier family 22 member 5, 6584

N. diseases: 103; N. variants: 130
Disease: Renal carnitine transport defect ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs60376624
rs60376624
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		G 0.810 CausalMutation CLINVAR Genotype-phenotype correlation in primary carnitine deficiency. 21922592 2012
dbSNP: rs60376624
rs60376624
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		G 0.810 GeneticVariation CLINVAR SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation. 23090741 2012
dbSNP: rs60376624
rs60376624
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		G 0.810 CausalMutation CLINVAR SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation. 23090741 2012
dbSNP: rs60376624
rs60376624
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		G 0.810 CausalMutation CLINVAR Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. 20574985 2010
dbSNP: rs60376624
rs60376624
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		G 0.810 CausalMutation CLINVAR Analysis of the SLC22A5 gene revealed that p.S467C was the most common mutation in mothers with CUD, while p.R254X was the most common mutation in newborns and children with CUD. 20074989 2010
dbSNP: rs60376624
rs60376624
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.810 GeneticVariation BEFREE Analysis of the SLC22A5 gene revealed that p.S467C was the most common mutation in mothers with CUD, while p.R254X was the most common mutation in newborns and children with CUD. 20074989 2010
dbSNP: rs60376624
rs60376624
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		G 0.810 GeneticVariation CLINVAR Genetic variations of the SLC22A5 gene in the Chinese and Indian populations of Singapore. 20208395 2010
dbSNP: rs60376624
rs60376624
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		G 0.810 CausalMutation CLINVAR Studies on functional sites of organic cation/carnitine transporter OCTN2 (SLC22A5) using a Ser467Cys mutant protein. 12183691 2002
dbSNP: rs60376624
rs60376624
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		G 0.810 GeneticVariation CLINVAR 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
dbSNP: rs60376624
rs60376624
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		G 0.810 CausalMutation CLINVAR 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
dbSNP: rs60376624
rs60376624
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.810 GeneticVariation UNIPROT
dbSNP: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 CausalMutation CLINVAR Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. 30609409 2019
dbSNP: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 CausalMutation CLINVAR Genomic sequencing identifies secondary findings in a cohort of parent study participants. 29790872 2018
dbSNP: rs121908888
rs121908888
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.800 GeneticVariation UNIPROT Functional and molecular studies in primary carnitine deficiency. 28841266 2017
dbSNP: rs121908889
rs121908889
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		A 0.800 CausalMutation CLINVAR Functional and molecular studies in primary carnitine deficiency. 28841266 2017
dbSNP: rs121908889
rs121908889
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.800 GeneticVariation UNIPROT Functional and molecular studies in primary carnitine deficiency. 28841266 2017
dbSNP: rs121908890
rs121908890
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.800 GeneticVariation UNIPROT Functional and molecular studies in primary carnitine deficiency. 28841266 2017
dbSNP: rs121908890
rs121908890
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 CausalMutation CLINVAR Functional and molecular studies in primary carnitine deficiency. 28841266 2017
dbSNP: rs121908891
rs121908891
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.800 GeneticVariation UNIPROT Functional and molecular studies in primary carnitine deficiency. 28841266 2017
dbSNP: rs144547521
rs144547521
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.800 GeneticVariation UNIPROT Functional and molecular studies in primary carnitine deficiency. 28841266 2017
dbSNP: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.800 GeneticVariation UNIPROT Functional and molecular studies in primary carnitine deficiency. 28841266 2017
dbSNP: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 CausalMutation CLINVAR Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California. 28711408 2017
dbSNP: rs151231558
rs151231558
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.800 CausalMutation CLINVAR Functional and molecular studies in primary carnitine deficiency. 28841266 2017
dbSNP: rs185551386
rs185551386
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		A 0.800 GeneticVariation CLINVAR Functional and molecular studies in primary carnitine deficiency. 28841266 2017
dbSNP: rs185551386
rs185551386
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.800 GeneticVariation UNIPROT Functional and molecular studies in primary carnitine deficiency. 28841266 2017