rs74315293

Orientation

plus

Stabilized

plus

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

Make rs74315293(C;T)

Make rs74315293(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

53213509

Gene

CPT2

is a	snp
is	mentioned by
dbSNP	rs74315293
dbSNP (classic)	rs74315293
ClinGen	rs74315293
ebi	rs74315293
HLI	rs74315293
Exac	rs74315293
Gnomad	rs74315293
Varsome	rs74315293
LitVar	rs74315293
Map	rs74315293
PheGenI	rs74315293
Biobank	rs74315293
1000 genomes	rs74315293
hgdp	rs74315293
ensembl	rs74315293
geneview	rs74315293
scholar	rs74315293
google	rs74315293
pharmgkb	rs74315293
gwascentral	rs74315293
openSNP	rs74315293
23andMe	rs74315293
SNPshot	rs74315293
SNPdbe	rs74315293
MSV3d	rs74315293
GWAS Ctlg	rs74315293

Max Magnitude

0

OMIM	600650
Desc
Variant	0001
Related	also

ClinVar
Risk	rs74315293(T;T)
Alt	rs74315293(T;T)
Reference	Rs74315293(C;C)
Significance	Pathogenic
Disease	Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency
Variation	info
Gene	CPT2
CLNDBN	Carnitine palmitoyltransferase II deficiency, infantile Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
Reversed	0
HGVS	NC_000001.10:g.53679181C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009508.3, RCV000202472.1, RCV000415574.1,