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rs80356791

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80356791(A;G)
Make rs80356791(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68775398
GeneCPT1A
is asnp
is mentioned by
dbSNPrs80356791
ebirs80356791
HLIrs80356791
Exacrs80356791
Varsomers80356791
Maprs80356791
PheGenIrs80356791
hapmaprs80356791
1000 genomesrs80356791
hgdprs80356791
ensemblrs80356791
gopubmedrs80356791
geneviewrs80356791
scholarrs80356791
googlers80356791
pharmgkbrs80356791
gwascentralrs80356791
openSNPrs80356791
23andMers80356791
23andMe allrs80356791
SNP Nexus

SNPshotrs80356791
SNPdbers80356791
MSV3drs80356791
GWAS Ctlgrs80356791
Max Magnitude0
OMIM600528
Desc
Variant0005
Relatedalso
ClinVar
Risk rs80356791(G;G)
Alt rs80356791(G;G)
Reference rs80356791(A;A)
Significance Pathogenic
Disease Carnitine palmitoyltransferase I deficiency
Variation info
Gene CPT1A
CLNDBN Carnitine palmitoyltransferase I deficiency
Reversed 1
HGVS NC_000011.9:g.68542866T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009633.6,


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

[PMID 14517221] Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.