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rs80356774

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356774(C;T)
Make rs80356774(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68807622
GeneCPT1A
is asnp
is mentioned by
dbSNPrs80356774
ebirs80356774
HLIrs80356774
Exacrs80356774
Varsomers80356774
Maprs80356774
PheGenIrs80356774
hapmaprs80356774
1000 genomesrs80356774
hgdprs80356774
ensemblrs80356774
gopubmedrs80356774
geneviewrs80356774
scholarrs80356774
googlers80356774
pharmgkbrs80356774
gwascentralrs80356774
openSNPrs80356774
23andMers80356774
23andMe allrs80356774
SNP Nexus

SNPshotrs80356774
SNPdbers80356774
MSV3drs80356774
GWAS Ctlgrs80356774
Max Magnitude0
OMIM600528
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80356774(T;T)
Alt rs80356774(T;T)
Reference rs80356774(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.68575090G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000009630.5, RCV000079914.3,


[PMID 12189492] Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.