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rs80356779

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356779(C;T)
Make rs80356779(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68780662
GeneCPT1A
is asnp
is mentioned by
dbSNPrs80356779
ebirs80356779
HLIrs80356779
Exacrs80356779
Varsomers80356779
Maprs80356779
PheGenIrs80356779
hapmaprs80356779
1000 genomesrs80356779
hgdprs80356779
ensemblrs80356779
gopubmedrs80356779
geneviewrs80356779
scholarrs80356779
googlers80356779
pharmgkbrs80356779
gwascentralrs80356779
openSNPrs80356779
23andMers80356779
23andMe allrs80356779
SNP Nexus

SNPshotrs80356779
SNPdbers80356779
MSV3drs80356779
GWAS Ctlgrs80356779
Max Magnitude0

[PMID 22045927OA-icon.png] Genetic polymorphisms in carnitine palmitoyltransferase 1A gene are associated with variation in body composition and fasting lipid traits in Yup'ik Eskimos

OMIM255120
Desc
Variant
Relatedalso
ClinVar
Risk rs80356779(T;T)
Alt rs80356779(T;T)
Reference rs80356779(C;C)
Significance Pathogenic
Disease Carnitine palmitoyltransferase I deficiency not provided
Variation info
Gene CPT1A
CLNDBN Carnitine palmitoyltransferase I deficiency not provided
Reversed 1
HGVS NC_000011.9:g.68548130G>A
CLNSRC HGMD
CLNACC RCV000055857.2, RCV000079911.3,


[PMID 11441142] Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.