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rs80356799

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAGT;AAGT) 0 common in clinvar
Make rs80356799(-;-)
Make rs80356799(-;AAGT)
ReferenceGRCh38 38.1/141
Chromosome11
Position68761533
GeneCPT1A
is asnp
is mentioned by
dbSNPrs80356799
ebirs80356799
HLIrs80356799
Exacrs80356799
Varsomers80356799
Maprs80356799
PheGenIrs80356799
hapmaprs80356799
1000 genomesrs80356799
hgdprs80356799
ensemblrs80356799
gopubmedrs80356799
geneviewrs80356799
scholarrs80356799
googlers80356799
pharmgkbrs80356799
gwascentralrs80356799
openSNPrs80356799
23andMers80356799
23andMe allrs80356799
SNP Nexus

SNPshotrs80356799
SNPdbers80356799
MSV3drs80356799
GWAS Ctlgrs80356799
Max Magnitude0
ClinVar
Risk rs80356799(;)
Alt rs80356799(;)
Reference rs80356799(AAGT;AAGT)
Significance Pathogenic
Disease Carnitine palmitoyltransferase I deficiency
Variation info
Gene CPT1A
CLNDBN Carnitine palmitoyltransferase I deficiency
Reversed 1
HGVS NC_000011.9:g.68529001_68529004delACTT
CLNSRC ClinVar GeneReviews
CLNACC RCV000055864.1,


[PMID 12111367] Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.