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rs80356777

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356777(C;T)
Make rs80356777(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68784909
GeneCPT1A
is asnp
is mentioned by
dbSNPrs80356777
ebirs80356777
HLIrs80356777
Exacrs80356777
Varsomers80356777
Maprs80356777
PheGenIrs80356777
hapmaprs80356777
1000 genomesrs80356777
hgdprs80356777
ensemblrs80356777
gopubmedrs80356777
geneviewrs80356777
scholarrs80356777
googlers80356777
pharmgkbrs80356777
gwascentralrs80356777
openSNPrs80356777
23andMers80356777
23andMe allrs80356777
SNP Nexus

SNPshotrs80356777
SNPdbers80356777
MSV3drs80356777
GWAS Ctlgrs80356777
Max Magnitude0
ClinVar
Risk rs80356777(T;T)
Alt rs80356777(T;T)
Reference Rs80356777(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.68552377G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000055853.1,


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