rs72552725

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	3	Carrier of a systemic carnitine deficiency mutation
(G;G)	7	Systemic primary carnitine deficiency (predicted)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132370067

Gene	LOC553103, SLC22A5

is a	snp
is	mentioned by
dbSNP	rs72552725
dbSNP (classic)	rs72552725
ClinGen	rs72552725
ebi	rs72552725
HLI	rs72552725
Exac	rs72552725
Gnomad	rs72552725
Varsome	rs72552725
LitVar	rs72552725
Map	rs72552725
PheGenI	rs72552725
Biobank	rs72552725
1000 genomes	rs72552725
hgdp	rs72552725
ensembl	rs72552725
geneview	rs72552725
scholar	rs72552725
google	rs72552725
pharmgkb	rs72552725
gwascentral	rs72552725
openSNP	rs72552725
23andMe	rs72552725
SNPshot	rs72552725
SNPdbe	rs72552725
MSV3d	rs72552725
GWAS Ctlg	rs72552725

Max Magnitude

7

aka c.95A>G (p.Asn32Ser or N32S)

ClinVar
Risk	Rs72552725(G;G)
Alt	Rs72552725(G;G)
Reference	Rs72552725(A;A)
Significance	Pathogenic
Disease	Renal carnitine transport defect not provided
Variation	info
Gene	LOC553103 SLC22A5
CLNDBN	Renal carnitine transport defect not provided
Reversed	0
HGVS	NC_000005.9:g.131705759A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000022302.2, RCV000414281.1,

[PMID 12210323] Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.