rs80356775

Orientation

minus

Stabilized

minus

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

Make rs80356775(C;T)

Make rs80356775(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68807553

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs80356775
dbSNP (classic)	rs80356775
ClinGen	rs80356775
ebi	rs80356775
HLI	rs80356775
Exac	rs80356775
Gnomad	rs80356775
Varsome	rs80356775
LitVar	rs80356775
Map	rs80356775
PheGenI	rs80356775
Biobank	rs80356775
1000 genomes	rs80356775
hgdp	rs80356775
ensembl	rs80356775
geneview	rs80356775
scholar	rs80356775
google	rs80356775
pharmgkb	rs80356775
gwascentral	rs80356775
openSNP	rs80356775
23andMe	rs80356775
SNPshot	rs80356775
SNPdbe	rs80356775
MSV3d	rs80356775
GWAS Ctlg	rs80356775

Max Magnitude

0

ClinVar
Risk	rs80356775(T;T)
Alt	rs80356775(T;T)
Reference	Rs80356775(C;C)
Significance	Pathogenic
Disease	Carnitine palmitoyltransferase I deficiency not specified
Variation	info
Gene	CPT1A
CLNDBN	Carnitine palmitoyltransferase I deficiency not specified
Reversed	1
HGVS	NC_000011.9:g.68575021G>A
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000055866.1, RCV000079915.4,

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