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rs80356784

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356784(G;T)
Make rs80356784(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68780705
GeneCPT1A
is asnp
is mentioned by
dbSNPrs80356784
ebirs80356784
HLIrs80356784
Exacrs80356784
Varsomers80356784
Maprs80356784
PheGenIrs80356784
hapmaprs80356784
1000 genomesrs80356784
hgdprs80356784
ensemblrs80356784
gopubmedrs80356784
geneviewrs80356784
scholarrs80356784
googlers80356784
pharmgkbrs80356784
gwascentralrs80356784
openSNPrs80356784
23andMers80356784
23andMe allrs80356784
SNP Nexus

SNPshotrs80356784
SNPdbers80356784
MSV3drs80356784
GWAS Ctlgrs80356784
Max Magnitude0
ClinVar
Risk rs80356784(A,T;A,T)
Alt rs80356784(A,T;A,T)
Reference rs80356784(G;G)
Significance Pathogenic
Disease Carnitine palmitoyltransferase I deficiency
Variation info
Gene CPT1A
CLNDBN Carnitine palmitoyltransferase I deficiency
Reversed 1
HGVS NC_000011.9:g.68548173C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000055855.1,


[PMID 15110323] Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.