rs28936674

Orientation

plus

Stabilized

plus

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

Make rs28936674(A;A)

Make rs28936674(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

53210194

Gene

CPT2

is a	snp
is	mentioned by
dbSNP	rs28936674
dbSNP (classic)	rs28936674
ClinGen	rs28936674
ebi	rs28936674
HLI	rs28936674
Exac	rs28936674
Gnomad	rs28936674
Varsome	rs28936674
LitVar	rs28936674
Map	rs28936674
PheGenI	rs28936674
Biobank	rs28936674
1000 genomes	rs28936674
hgdp	rs28936674
ensembl	rs28936674
geneview	rs28936674
scholar	rs28936674
google	rs28936674
pharmgkb	rs28936674
gwascentral	rs28936674
openSNP	rs28936674
23andMe	rs28936674
SNPshot	rs28936674
SNPdbe	rs28936674
MSV3d	rs28936674
GWAS Ctlg	rs28936674

Max Magnitude

0

OMIM	600650
Desc	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
Variant	0006
Related	also

ClinVar
Risk	rs28936674(A;A)
Alt	rs28936674(A;A)
Reference	Rs28936674(G;G)
Significance	Pathogenic
Disease	Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency
Variation	info
Gene	CPT2
CLNDBN	Carnitine palmitoyltransferase II deficiency, infantile Carnitine palmitoyltransferase II deficiency
Reversed	0
HGVS	NC_000001.10:g.53675866G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009516.3, RCV000202437.1,