rs74315297

Orientation

plus

Stabilized

plus

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

Make rs74315297(C;C)

Make rs74315297(C;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

53211016

Gene

CPT2

is a	snp
is	mentioned by
dbSNP	rs74315297
dbSNP (classic)	rs74315297
ClinGen	rs74315297
ebi	rs74315297
HLI	rs74315297
Exac	rs74315297
Gnomad	rs74315297
Varsome	rs74315297
LitVar	rs74315297
Map	rs74315297
PheGenI	rs74315297
Biobank	rs74315297
1000 genomes	rs74315297
hgdp	rs74315297
ensembl	rs74315297
geneview	rs74315297
scholar	rs74315297
google	rs74315297
pharmgkb	rs74315297
gwascentral	rs74315297
openSNP	rs74315297
23andMe	rs74315297
SNPshot	rs74315297
SNPdbe	rs74315297
MSV3d	rs74315297
GWAS Ctlg	rs74315297

Max Magnitude

0

OMIM	600650
Desc
Variant	0009
Related	also

ClinVar
Risk	rs74315297(C;C)
Alt	rs74315297(C;C)
Reference	Rs74315297(T;T)
Significance	Other
Disease	Carnitine palmitoyltransferase II deficiency not provided Carnitine palmitoyltransferase II deficiency not specified
Variation	info
Gene	CPT2
CLNDBN	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced not provided Carnitine palmitoyltransferase II deficiency not specified
Reversed	0
HGVS	NC_000001.10:g.53676688T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009520.3, RCV000178040.2, RCV000202478.1, RCV000202553.1, RCV000430397.1,