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rs80356780

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356780(A;A)
Make rs80356780(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68760238
GeneCPT1A
is asnp
is mentioned by
dbSNPrs80356780
ebirs80356780
HLIrs80356780
Exacrs80356780
Varsomers80356780
Maprs80356780
PheGenIrs80356780
hapmaprs80356780
1000 genomesrs80356780
hgdprs80356780
ensemblrs80356780
gopubmedrs80356780
geneviewrs80356780
scholarrs80356780
googlers80356780
pharmgkbrs80356780
gwascentralrs80356780
openSNPrs80356780
23andMers80356780
23andMe allrs80356780
SNP Nexus

SNPshotrs80356780
SNPdbers80356780
MSV3drs80356780
GWAS Ctlgrs80356780
Max Magnitude0
OMIM600528
Desc
Variant0011
Relatedalso
ClinVar
Risk rs80356780(A;A)
Alt rs80356780(A;A)
Reference rs80356780(G;G)
Significance Pathogenic
Disease Carnitine palmitoyltransferase I deficiency
Variation info
Gene CPT1A
CLNDBN Carnitine palmitoyltransferase I deficiency
Reversed 1
HGVS NC_000011.9:g.68527706C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009638.4,


[PMID 11350182] Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.