rs80356780

Orientation

minus

Stabilized

minus

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

Make rs80356780(A;A)

Make rs80356780(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68760238

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs80356780
dbSNP (classic)	rs80356780
ClinGen	rs80356780
ebi	rs80356780
HLI	rs80356780
Exac	rs80356780
Gnomad	rs80356780
Varsome	rs80356780
LitVar	rs80356780
Map	rs80356780
PheGenI	rs80356780
Biobank	rs80356780
1000 genomes	rs80356780
hgdp	rs80356780
ensembl	rs80356780
geneview	rs80356780
scholar	rs80356780
google	rs80356780
pharmgkb	rs80356780
gwascentral	rs80356780
openSNP	rs80356780
23andMe	rs80356780
SNPshot	rs80356780
SNPdbe	rs80356780
MSV3d	rs80356780
GWAS Ctlg	rs80356780

Max Magnitude

0

OMIM	600528
Desc
Variant	0011
Related	also

ClinVar
Risk	rs80356780(A;A)
Alt	rs80356780(A;A)
Reference	Rs80356780(G;G)
Significance	Other
Disease	Carnitine palmitoyltransferase I deficiency
Variation	info
Gene	CPT1A
CLNDBN	Carnitine palmitoyltransferase I deficiency
Reversed	1
HGVS	NC_000011.9:g.68527706C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009638.4,

[PMID 11350182] Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.