rs28936375

Orientation

plus

Stabilized

plus

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

Make rs28936375(A;A)

Make rs28936375(A;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

53197092

Gene

CPT2

is a	snp
is	mentioned by
dbSNP	rs28936375
dbSNP (classic)	rs28936375
ClinGen	rs28936375
ebi	rs28936375
HLI	rs28936375
Exac	rs28936375
Gnomad	rs28936375
Varsome	rs28936375
LitVar	rs28936375
Map	rs28936375
PheGenI	rs28936375
Biobank	rs28936375
1000 genomes	rs28936375
hgdp	rs28936375
ensembl	rs28936375
geneview	rs28936375
scholar	rs28936375
google	rs28936375
pharmgkb	rs28936375
gwascentral	rs28936375
openSNP	rs28936375
23andMe	rs28936375
SNPshot	rs28936375
SNPdbe	rs28936375
MSV3d	rs28936375
GWAS Ctlg	rs28936375

Max Magnitude

0

OMIM	600650
Desc	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
Variant	0003
Related	also

ClinVar
Risk	rs28936375(A;A)
Alt	rs28936375(A;A)
Reference	Rs28936375(C;C)
Significance	Pathogenic
Disease	Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency not provided
Variation	info
Gene	CPT2
CLNDBN	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced Carnitine palmitoyltransferase II deficiency, infantile Carnitine palmitoyltransferase II deficiency not provided
Reversed	0
HGVS	NC_000001.10:g.53662764C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009511.3, RCV000009512.4, RCV000202440.1, RCV000440440.1,