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rs80356776

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356776(C;T)
Make rs80356776(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68793341
GeneCPT1A
is asnp
is mentioned by
dbSNPrs80356776
ebirs80356776
HLIrs80356776
Exacrs80356776
Varsomers80356776
Maprs80356776
PheGenIrs80356776
hapmaprs80356776
1000 genomesrs80356776
hgdprs80356776
ensemblrs80356776
gopubmedrs80356776
geneviewrs80356776
scholarrs80356776
googlers80356776
pharmgkbrs80356776
gwascentralrs80356776
openSNPrs80356776
23andMers80356776
23andMe allrs80356776
SNP Nexus

SNPshotrs80356776
SNPdbers80356776
MSV3drs80356776
GWAS Ctlgrs80356776
Max Magnitude0
ClinVar
Risk rs80356776(T;T)
Alt rs80356776(T;T)
Reference rs80356776(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.68560809G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000055870.1,


[PMID 15669684] Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.