rs74315296

Orientation

plus

Stabilized

plus

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

Make rs74315296(C;T)

Make rs74315296(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

53211181

Gene

CPT2

is a	snp
is	mentioned by
dbSNP	rs74315296
dbSNP (classic)	rs74315296
ClinGen	rs74315296
ebi	rs74315296
HLI	rs74315296
Exac	rs74315296
Gnomad	rs74315296
Varsome	rs74315296
LitVar	rs74315296
Map	rs74315296
PheGenI	rs74315296
Biobank	rs74315296
1000 genomes	rs74315296
hgdp	rs74315296
ensembl	rs74315296
geneview	rs74315296
scholar	rs74315296
google	rs74315296
pharmgkb	rs74315296
gwascentral	rs74315296
openSNP	rs74315296
23andMe	rs74315296
SNPshot	rs74315296
SNPdbe	rs74315296
MSV3d	rs74315296
GWAS Ctlg	rs74315296

Max Magnitude

0

OMIM	600650
Desc
Variant	0008
Related	also

ClinVar
Risk	rs74315296(T;T)
Alt	rs74315296(T;T)
Reference	Rs74315296(C;C)
Significance	Pathogenic
Disease	Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency
Variation	info
Gene	CPT2
CLNDBN	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced Carnitine palmitoyltransferase II deficiency
Reversed	0
HGVS	NC_000001.10:g.53676853C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009519.3, RCV000202513.1,