rs80356778

Orientation

minus

Stabilized

minus

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

Make rs80356778(A;G)

Make rs80356778(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68780737

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs80356778
dbSNP (classic)	rs80356778
ClinGen	rs80356778
ebi	rs80356778
HLI	rs80356778
Exac	rs80356778
Gnomad	rs80356778
Varsome	rs80356778
LitVar	rs80356778
Map	rs80356778
PheGenI	rs80356778
Biobank	rs80356778
1000 genomes	rs80356778
hgdp	rs80356778
ensembl	rs80356778
geneview	rs80356778
scholar	rs80356778
google	rs80356778
pharmgkb	rs80356778
gwascentral	rs80356778
openSNP	rs80356778
23andMe	rs80356778
SNPshot	rs80356778
SNPdbe	rs80356778
MSV3d	rs80356778
GWAS Ctlg	rs80356778

Max Magnitude

0

OMIM	600528
Desc
Variant	0001
Related	also

ClinVar
Risk	rs80356778(G;G)
Alt	rs80356778(G;G)
Reference	Rs80356778(A;A)
Significance	Pathogenic
Disease	Carnitine palmitoyltransferase I deficiency
Variation	info
Gene	CPT1A
CLNDBN	Carnitine palmitoyltransferase I deficiency
Reversed	1
HGVS	NC_000011.9:g.68548205T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009628.2,

[PMID 9691089] Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.