rs80356784

Orientation

minus

Stabilized

minus

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

Make rs80356784(G;T)

Make rs80356784(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68780705

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs80356784
dbSNP (classic)	rs80356784
ClinGen	rs80356784
ebi	rs80356784
HLI	rs80356784
Exac	rs80356784
Gnomad	rs80356784
Varsome	rs80356784
LitVar	rs80356784
Map	rs80356784
PheGenI	rs80356784
Biobank	rs80356784
1000 genomes	rs80356784
hgdp	rs80356784
ensembl	rs80356784
geneview	rs80356784
scholar	rs80356784
google	rs80356784
pharmgkb	rs80356784
gwascentral	rs80356784
openSNP	rs80356784
23andMe	rs80356784
SNPshot	rs80356784
SNPdbe	rs80356784
MSV3d	rs80356784
GWAS Ctlg	rs80356784

Max Magnitude

0

ClinVar
Risk	rs80356784(A;A) rs80356784(T;T)
Alt	rs80356784(A;A) rs80356784(T;T)
Reference	Rs80356784(G;G)
Significance	Pathogenic
Disease	Carnitine palmitoyltransferase I deficiency
Variation	info
Gene	CPT1A
CLNDBN	Carnitine palmitoyltransferase I deficiency
Reversed	1
HGVS	NC_000011.9:g.68548173C>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000055855.1,

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