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rs28936374

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28936374(A;A)
Make rs28936374(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68760241
GeneCPT1A
is asnp
is mentioned by
dbSNPrs28936374
ebirs28936374
HLIrs28936374
Exacrs28936374
Varsomers28936374
Maprs28936374
PheGenIrs28936374
hapmaprs28936374
1000 genomesrs28936374
hgdprs28936374
ensemblrs28936374
gopubmedrs28936374
geneviewrs28936374
scholarrs28936374
googlers28936374
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openSNPrs28936374
23andMers28936374
23andMe allrs28936374
SNP Nexus

SNPshotrs28936374
SNPdbers28936374
MSV3drs28936374
GWAS Ctlgrs28936374
Max Magnitude0
OMIM600528
DescCARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY
Variant0009
Relatedalso
ClinVar
Risk rs28936374(A;A)
Alt rs28936374(A;A)
Reference rs28936374(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.68527709C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009636.3,


[PMID 9048718OA-icon.png] Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy.


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