rs74315295

Orientation

plus

Stabilized

plus

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

Make rs74315295(A;A)

Make rs74315295(A;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

53210822

Gene

CPT2

is a	snp
is	mentioned by
dbSNP	rs74315295
dbSNP (classic)	rs74315295
ClinGen	rs74315295
ebi	rs74315295
HLI	rs74315295
Exac	rs74315295
Gnomad	rs74315295
Varsome	rs74315295
LitVar	rs74315295
Map	rs74315295
PheGenI	rs74315295
Biobank	rs74315295
1000 genomes	rs74315295
hgdp	rs74315295
ensembl	rs74315295
geneview	rs74315295
scholar	rs74315295
google	rs74315295
pharmgkb	rs74315295
gwascentral	rs74315295
openSNP	rs74315295
23andMe	rs74315295
SNPshot	rs74315295
SNPdbe	rs74315295
MSV3d	rs74315295
GWAS Ctlg	rs74315295

Max Magnitude

0

OMIM	600650
Desc
Variant	0007
Related	also

ClinVar
Risk	rs74315295(A;A)
Alt	rs74315295(A;A)
Reference	Rs74315295(T;T)
Significance	Other
Disease	Carnitine palmitoyltransferase II deficiency 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, myopathic, stress-induced Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency, lethal neonatal
Reversed	0
HGVS	NC_000001.10:g.53676494T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009517.3, RCV000009518.4, RCV000202462.1, RCV000411002.1,