rs80356789

Orientation

minus

Stabilized

minus

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

Make rs80356789(C;G)

Make rs80356789(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68793370

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs80356789
dbSNP (classic)	rs80356789
ClinGen	rs80356789
ebi	rs80356789
HLI	rs80356789
Exac	rs80356789
Gnomad	rs80356789
Varsome	rs80356789
LitVar	rs80356789
Map	rs80356789
PheGenI	rs80356789
Biobank	rs80356789
1000 genomes	rs80356789
hgdp	rs80356789
ensembl	rs80356789
geneview	rs80356789
scholar	rs80356789
google	rs80356789
pharmgkb	rs80356789
gwascentral	rs80356789
openSNP	rs80356789
23andMe	rs80356789
SNPshot	rs80356789
SNPdbe	rs80356789
MSV3d	rs80356789
GWAS Ctlg	rs80356789

Max Magnitude

0

ClinVar
Risk	rs80356789(G;G) rs80356789(T;T)
Alt	rs80356789(G;G) rs80356789(T;T)
Reference	Rs80356789(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.68560838G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000055869.1,

[PMID 11441142] Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.