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rs80356790

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356790(C;T)
Make rs80356790(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68781882
GeneCPT1A
is asnp
is mentioned by
dbSNPrs80356790
ebirs80356790
HLIrs80356790
Exacrs80356790
Varsomers80356790
Maprs80356790
PheGenIrs80356790
hapmaprs80356790
1000 genomesrs80356790
hgdprs80356790
ensemblrs80356790
gopubmedrs80356790
geneviewrs80356790
scholarrs80356790
googlers80356790
pharmgkbrs80356790
gwascentralrs80356790
openSNPrs80356790
23andMers80356790
23andMe allrs80356790
SNP Nexus

SNPshotrs80356790
SNPdbers80356790
MSV3drs80356790
GWAS Ctlgrs80356790
Merged fromRs28936373
Max Magnitude0
OMIM600528
Desc
Variant0004
Relatedalso
ClinVar
Risk rs80356790(T;T)
Alt rs80356790(T;T)
Reference rs80356790(C;C)
Significance Pathogenic
Disease Carnitine palmitoyltransferase I deficiency
Variation info
Gene CPT1A
CLNDBN Carnitine palmitoyltransferase I deficiency
Reversed 1
HGVS NC_000011.9:g.68549350G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009632.2,


[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.