rs74315298

Orientation

plus

Stabilized

plus

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

Make rs74315298(C;T)

Make rs74315298(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

53210354

Gene

CPT2

is a	snp
is	mentioned by
dbSNP	rs74315298
dbSNP (classic)	rs74315298
ClinGen	rs74315298
ebi	rs74315298
HLI	rs74315298
Exac	rs74315298
Gnomad	rs74315298
Varsome	rs74315298
LitVar	rs74315298
Map	rs74315298
PheGenI	rs74315298
Biobank	rs74315298
1000 genomes	rs74315298
hgdp	rs74315298
ensembl	rs74315298
geneview	rs74315298
scholar	rs74315298
google	rs74315298
pharmgkb	rs74315298
gwascentral	rs74315298
openSNP	rs74315298
23andMe	rs74315298
SNPshot	rs74315298
SNPdbe	rs74315298
MSV3d	rs74315298
GWAS Ctlg	rs74315298

Max Magnitude

0

OMIM	600650
Desc
Variant	0013
Related	also

ClinVar
Risk	rs74315298(T;T)
Alt	rs74315298(T;T)
Reference	Rs74315298(C;C)
Significance	Pathogenic
Disease	Carnitine palmitoyltransferase II deficiency not provided Carnitine palmitoyltransferase II deficiency not specified
Variation	info
Gene	CPT2
CLNDBN	Carnitine palmitoyltransferase II deficiency, lethal neonatal not provided Carnitine palmitoyltransferase II deficiency not specified
Reversed	0
HGVS	NC_000001.10:g.53676026C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009526.2, RCV000185840.2, RCV000202466.1, RCV000328608.1,