rs80356799

Orientation

minus

Stabilized

minus

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

Make rs80356799(-;-)

Make rs80356799(-;AAGT)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68761533

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs80356799
dbSNP (classic)	rs80356799
ClinGen	rs80356799
ebi	rs80356799
HLI	rs80356799
Exac	rs80356799
Gnomad	rs80356799
Varsome	rs80356799
LitVar	rs80356799
Map	rs80356799
PheGenI	rs80356799
Biobank	rs80356799
1000 genomes	rs80356799
hgdp	rs80356799
ensembl	rs80356799
geneview	rs80356799
scholar	rs80356799
google	rs80356799
pharmgkb	rs80356799
gwascentral	rs80356799
openSNP	rs80356799
23andMe	rs80356799
SNPshot	rs80356799
SNPdbe	rs80356799
MSV3d	rs80356799
GWAS Ctlg	rs80356799

Max Magnitude

0

ClinVar
Risk	rs80356799(-;-)
Alt	rs80356799(-;-)
Reference	Rs80356799(AAGT;AAGT)
Significance	Pathogenic
Disease	Carnitine palmitoyltransferase I deficiency
Variation	info
Gene	CPT1A
CLNDBN	Carnitine palmitoyltransferase I deficiency
Reversed	1
HGVS	NC_000011.9:g.68529001_68529004delACTT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000055864.1,

[PMID 12111367] Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.