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rs80356789

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356789(C;G)
Make rs80356789(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68793370
GeneCPT1A
is asnp
is mentioned by
dbSNPrs80356789
ebirs80356789
HLIrs80356789
Exacrs80356789
Varsomers80356789
Maprs80356789
PheGenIrs80356789
hapmaprs80356789
1000 genomesrs80356789
hgdprs80356789
ensemblrs80356789
gopubmedrs80356789
geneviewrs80356789
scholarrs80356789
googlers80356789
pharmgkbrs80356789
gwascentralrs80356789
openSNPrs80356789
23andMers80356789
23andMe allrs80356789
SNP Nexus

SNPshotrs80356789
SNPdbers80356789
MSV3drs80356789
GWAS Ctlgrs80356789
Max Magnitude0
ClinVar
Risk rs80356789(G,T;G,T)
Alt rs80356789(G,T;G,T)
Reference rs80356789(C;C)
Significance Pathogenic
Disease Carnitine palmitoyltransferase I deficiency
Variation info
Gene CPT1A
CLNDBN Carnitine palmitoyltransferase I deficiency
Reversed 1
HGVS NC_000011.9:g.68560838G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000055869.1,


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