rs80356796

Orientation

minus

Stabilized

minus

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

Make rs80356796(C;G)

Make rs80356796(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68793336

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs80356796
dbSNP (classic)	rs80356796
ClinGen	rs80356796
ebi	rs80356796
HLI	rs80356796
Exac	rs80356796
Gnomad	rs80356796
Varsome	rs80356796
LitVar	rs80356796
Map	rs80356796
PheGenI	rs80356796
Biobank	rs80356796
1000 genomes	rs80356796
hgdp	rs80356796
ensembl	rs80356796
geneview	rs80356796
scholar	rs80356796
google	rs80356796
pharmgkb	rs80356796
gwascentral	rs80356796
openSNP	rs80356796
23andMe	rs80356796
SNPshot	rs80356796
SNPdbe	rs80356796
MSV3d	rs80356796
GWAS Ctlg	rs80356796

Max Magnitude

0

ClinVar
Risk	rs80356796(G;G)
Alt	rs80356796(G;G)
Reference	Rs80356796(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.68560804G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000055872.1, RCV000298507.1,

[PMID 15110323] Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.