rs80356777

Orientation

minus

Stabilized

minus

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

Make rs80356777(C;T)

Make rs80356777(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68784909

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs80356777
dbSNP (classic)	rs80356777
ClinGen	rs80356777
ebi	rs80356777
HLI	rs80356777
Exac	rs80356777
Gnomad	rs80356777
Varsome	rs80356777
LitVar	rs80356777
Map	rs80356777
PheGenI	rs80356777
Biobank	rs80356777
1000 genomes	rs80356777
hgdp	rs80356777
ensembl	rs80356777
geneview	rs80356777
scholar	rs80356777
google	rs80356777
pharmgkb	rs80356777
gwascentral	rs80356777
openSNP	rs80356777
23andMe	rs80356777
SNPshot	rs80356777
SNPdbe	rs80356777
MSV3d	rs80356777
GWAS Ctlg	rs80356777

Max Magnitude

0

ClinVar
Risk	rs80356777(T;T)
Alt	rs80356777(T;T)
Reference	Rs80356777(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.68552377G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000055853.1,

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