rs72552729

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs72552729(C;C)

Make rs72552729(C;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132387047

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs72552729
dbSNP (classic)	rs72552729
ClinGen	rs72552729
ebi	rs72552729
HLI	rs72552729
Exac	rs72552729
Gnomad	rs72552729
Varsome	rs72552729
LitVar	rs72552729
Map	rs72552729
PheGenI	rs72552729
Biobank	rs72552729
1000 genomes	rs72552729
hgdp	rs72552729
ensembl	rs72552729
geneview	rs72552729
scholar	rs72552729
google	rs72552729
pharmgkb	rs72552729
gwascentral	rs72552729
openSNP	rs72552729
23andMe	rs72552729
SNPshot	rs72552729
SNPdbe	rs72552729
MSV3d	rs72552729
GWAS Ctlg	rs72552729

Max Magnitude

0

ClinVar
Risk	rs72552729(A;A) rs72552729(C;C)
Alt	rs72552729(A;A) rs72552729(C;C)
Reference	Rs72552729(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.131722739T>A; NC_000005.9:g.131722739T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000032092.2, RCV000022355.2,

[PMID 10612840] Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency.

[PMID 16652335] Pharmacological rescue of carnitine transport in primary carnitine deficiency.