rs80356776

Orientation

minus

Stabilized

minus

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

Make rs80356776(C;T)

Make rs80356776(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68793341

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs80356776
dbSNP (classic)	rs80356776
ClinGen	rs80356776
ebi	rs80356776
HLI	rs80356776
Exac	rs80356776
Gnomad	rs80356776
Varsome	rs80356776
LitVar	rs80356776
Map	rs80356776
PheGenI	rs80356776
Biobank	rs80356776
1000 genomes	rs80356776
hgdp	rs80356776
ensembl	rs80356776
geneview	rs80356776
scholar	rs80356776
google	rs80356776
pharmgkb	rs80356776
gwascentral	rs80356776
openSNP	rs80356776
23andMe	rs80356776
SNPshot	rs80356776
SNPdbe	rs80356776
MSV3d	rs80356776
GWAS Ctlg	rs80356776

Max Magnitude

0

ClinVar
Risk	rs80356776(T;T)
Alt	rs80356776(T;T)
Reference	Rs80356776(C;C)
Significance	Pathogenic
Disease	Carnitine palmitoyltransferase I deficiency
Variation	info
Gene	CPT1A
CLNDBN	Carnitine palmitoyltransferase I deficiency
Reversed	1
HGVS	NC_000011.9:g.68560809G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000055870.1,

[PMID 15669684] Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.