rs28936673

Orientation

plus

Stabilized

plus

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

Make rs28936673(A;C)

Make rs28936673(C;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

53213501

Gene

CPT2

is a	snp
is	mentioned by
dbSNP	rs28936673
dbSNP (classic)	rs28936673
ClinGen	rs28936673
ebi	rs28936673
HLI	rs28936673
Exac	rs28936673
Gnomad	rs28936673
Varsome	rs28936673
LitVar	rs28936673
Map	rs28936673
PheGenI	rs28936673
Biobank	rs28936673
1000 genomes	rs28936673
hgdp	rs28936673
ensembl	rs28936673
geneview	rs28936673
scholar	rs28936673
google	rs28936673
pharmgkb	rs28936673
gwascentral	rs28936673
openSNP	rs28936673
23andMe	rs28936673
SNPshot	rs28936673
SNPdbe	rs28936673
MSV3d	rs28936673
GWAS Ctlg	rs28936673

Max Magnitude

0

OMIM	600650
Desc	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
Variant	0005
Related	also

ClinVar
Risk	rs28936673(C;C)
Alt	rs28936673(C;C)
Reference	Rs28936673(A;A)
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.53679173A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009514.5, RCV000202449.1, RCV000415611.1,