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rs80356775

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356775(C;T)
Make rs80356775(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68807553
GeneCPT1A
is asnp
is mentioned by
dbSNPrs80356775
ebirs80356775
HLIrs80356775
Exacrs80356775
Varsomers80356775
Maprs80356775
PheGenIrs80356775
hapmaprs80356775
1000 genomesrs80356775
hgdprs80356775
ensemblrs80356775
gopubmedrs80356775
geneviewrs80356775
scholarrs80356775
googlers80356775
pharmgkbrs80356775
gwascentralrs80356775
openSNPrs80356775
23andMers80356775
23andMe allrs80356775
SNP Nexus

SNPshotrs80356775
SNPdbers80356775
MSV3drs80356775
GWAS Ctlgrs80356775
Max Magnitude0
ClinVar
Risk rs80356775(T;T)
Alt rs80356775(T;T)
Reference rs80356775(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.68575021G>A
CLNSRC HGMD
CLNACC RCV000055866.1, RCV000079915.4,


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