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rs386134204

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386134204(-;-)
Make rs386134204(-;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132385481
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs386134204
ebirs386134204
HLIrs386134204
Exacrs386134204
Varsomers386134204
Maprs386134204
PheGenIrs386134204
hapmaprs386134204
1000 genomesrs386134204
hgdprs386134204
ensemblrs386134204
gopubmedrs386134204
geneviewrs386134204
scholarrs386134204
googlers386134204
pharmgkbrs386134204
gwascentralrs386134204
openSNPrs386134204
23andMers386134204
23andMe allrs386134204
SNP Nexus

SNPshotrs386134204
SNPdbers386134204
MSV3drs386134204
GWAS Ctlgrs386134204
Max Magnitude0
ClinVar
Risk rs386134204(;)
Alt rs386134204(;)
Reference rs386134204(T;T)
Significance Untested
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131721173delT
CLNSRC ClinVar
CLNACC RCV000022345.2,


[PMID 12409266] Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency.