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: rs121908893
rs121908893
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.730 CausalMutation CLINVAR The newly identified homozygous nonsense c.760C>T (p.R254X) mutation of the SLC22A5 gene probably underlies the primary carnitine deficiency of the proband. 26252091 2015
dbSNP: rs121908893
rs121908893
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.730 CausalMutation CLINVAR Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype. 23379544 2014
dbSNP: rs121908893
rs121908893
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.730 GeneticVariation BEFREE Further functional studies with a large sample size are required to understand the relationship between R254X mutation and CDSP. 25132046 2014
dbSNP: rs121908893
rs121908893
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.730 CausalMutation CLINVAR Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. 20574985 2010
dbSNP: rs121908893
rs121908893
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.730 CausalMutation CLINVAR Genetic variations of the SLC22A5 gene in the Chinese and Indian populations of Singapore. 20208395 2010
dbSNP: rs121908893
rs121908893
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.730 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: rs121908893
rs121908893
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.730 CausalMutation CLINVAR Additional molecular investigations identified two mutations (R254X and IVS3 + 1G > A) in the patient's OCTN2 (SLC22A5) gene, consistent with a diagnosis of primary carnitine deficiency due to carnitine transporter defect. 17703373 2007
dbSNP: rs121908893
rs121908893
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.730 CausalMutation CLINVAR Exclusive cardiac dysfunction in familial primary carnitine deficiency cases: a genotype-phenotype correlation. 17594400 2007
dbSNP: rs121908893
rs121908893
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		0.730 GeneticVariation BEFREE Additional molecular investigations identified two mutations (R254X and IVS3 + 1G > A) in the patient's OCTN2 (SLC22A5) gene, consistent with a diagnosis of primary carnitine deficiency due to carnitine transporter defect. 17703373 2007
dbSNP: rs121908893
rs121908893
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.730 CausalMutation CLINVAR OCTN2 mutation (R254X) found in Saudi Arabian kindred: recurrent mutation or ancient founder mutation? 15303004 2004
dbSNP: rs121908893
rs121908893
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease:
Renal carnitine transport defect 		T 0.730 CausalMutation CLINVAR A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients. 12204000 2002