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rs28936673

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28936673(A;C)
Make rs28936673(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position53213501
GeneCPT2
is asnp
is mentioned by
dbSNPrs28936673
ebirs28936673
HLIrs28936673
Exacrs28936673
Varsomers28936673
Maprs28936673
PheGenIrs28936673
hapmaprs28936673
1000 genomesrs28936673
hgdprs28936673
ensemblrs28936673
gopubmedrs28936673
geneviewrs28936673
scholarrs28936673
googlers28936673
pharmgkbrs28936673
gwascentralrs28936673
openSNPrs28936673
23andMers28936673
23andMe allrs28936673
SNP Nexus

SNPshotrs28936673
SNPdbers28936673
MSV3drs28936673
GWAS Ctlgrs28936673
Max Magnitude0
OMIM600650
DescCARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
Variant0005
Relatedalso


ClinVar
Risk rs28936673(C;C)
Alt rs28936673(C;C)
Reference rs28936673(A;A)
Significance Pathogenic
Disease Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency
Variation info
Gene CPT2
CLNDBN Carnitine palmitoyltransferase II deficiency, infantile Carnitine palmitoyltransferase II deficiency, late-onset Carnitine palmitoyltransferase II deficiency
Reversed 0
HGVS NC_000001.10:g.53679173A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009514.4, RCV000009515.2, RCV000202449.1,