rs80356783

Orientation

minus

Stabilized

minus

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

Make rs80356783(G;G)

Make rs80356783(G;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68784951

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs80356783
dbSNP (classic)	rs80356783
ClinGen	rs80356783
ebi	rs80356783
HLI	rs80356783
Exac	rs80356783
Gnomad	rs80356783
Varsome	rs80356783
LitVar	rs80356783
Map	rs80356783
PheGenI	rs80356783
Biobank	rs80356783
1000 genomes	rs80356783
hgdp	rs80356783
ensembl	rs80356783
geneview	rs80356783
scholar	rs80356783
google	rs80356783
pharmgkb	rs80356783
gwascentral	rs80356783
openSNP	rs80356783
23andMe	rs80356783
SNPshot	rs80356783
SNPdbe	rs80356783
MSV3d	rs80356783
GWAS Ctlg	rs80356783

Max Magnitude

0

ClinVar
Risk	rs80356783(G;G)
Alt	rs80356783(G;G)
Reference	Rs80356783(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.68552419A>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000055852.1,

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