rs201065226

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a carnitine palmitoyltransferase II deficiency mutation

Make rs201065226(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

53210044

Gene

CPT2

is a	snp
is	mentioned by
dbSNP	rs201065226
dbSNP (classic)	rs201065226
ClinGen	rs201065226
ebi	rs201065226
HLI	rs201065226
Exac	rs201065226
Gnomad	rs201065226
Varsome	rs201065226
LitVar	rs201065226
Map	rs201065226
PheGenI	rs201065226
Biobank	rs201065226
1000 genomes	rs201065226
hgdp	rs201065226
ensembl	rs201065226
geneview	rs201065226
scholar	rs201065226
google	rs201065226
pharmgkb	rs201065226
gwascentral	rs201065226
openSNP	rs201065226
23andMe	rs201065226
SNPshot	rs201065226
SNPdbe	rs201065226
MSV3d	rs201065226
GWAS Ctlg	rs201065226

Max Magnitude

3

aka c.370C>T (p.Arg124Ter or R124X)

ClinVar
Risk	rs201065226(T;T)
Alt	rs201065226(T;T)
Reference	Rs201065226(C;C)
Significance	Pathogenic
Disease	not provided Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency
Variation	info
Gene	CPT2
CLNDBN	not provided Carnitine palmitoyltransferase II deficiency, infantile Carnitine palmitoyltransferase II deficiency, lethal neonatal Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
Reversed	0
HGVS	NC_000001.10:g.53675716C>T
CLNSRC
CLNACC	RCV000185829.2, RCV000409811.1, RCV000410924.1, RCV000411770.1,