rs80356793

Orientation

minus

Stabilized

minus

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

Make rs80356793(C;C)

Make rs80356793(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68780647

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs80356793
dbSNP (classic)	rs80356793
ClinGen	rs80356793
ebi	rs80356793
HLI	rs80356793
Exac	rs80356793
Gnomad	rs80356793
Varsome	rs80356793
LitVar	rs80356793
Map	rs80356793
PheGenI	rs80356793
Biobank	rs80356793
1000 genomes	rs80356793
hgdp	rs80356793
ensembl	rs80356793
geneview	rs80356793
scholar	rs80356793
google	rs80356793
pharmgkb	rs80356793
gwascentral	rs80356793
openSNP	rs80356793
23andMe	rs80356793
SNPshot	rs80356793
SNPdbe	rs80356793
MSV3d	rs80356793
GWAS Ctlg	rs80356793

Max Magnitude

0

ClinVar
Risk	rs80356793(C;C)
Alt	rs80356793(C;C)
Reference	Rs80356793(T;T)
Significance	Pathogenic
Disease	Carnitine palmitoyltransferase I deficiency
Variation	info
Gene	CPT1A
CLNDBN	Carnitine palmitoyltransferase I deficiency
Reversed	1
HGVS	NC_000011.9:g.68548115A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000055858.1,

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