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rs74315294

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315294(C;T)
Make rs74315294(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position53202427
GeneCPT2
is asnp
is mentioned by
dbSNPrs74315294
ebirs74315294
HLIrs74315294
Exacrs74315294
Varsomers74315294
Maprs74315294
PheGenIrs74315294
hapmaprs74315294
1000 genomesrs74315294
hgdprs74315294
ensemblrs74315294
gopubmedrs74315294
geneviewrs74315294
scholarrs74315294
googlers74315294
pharmgkbrs74315294
gwascentralrs74315294
openSNPrs74315294
23andMers74315294
23andMe allrs74315294
SNP Nexus

SNPshotrs74315294
SNPdbers74315294
MSV3drs74315294
GWAS Ctlgrs74315294
GMAF0.0009183
Max Magnitude0

minor allele should be reclassified as benign according to [PMID 26990548OA-icon.png]

OMIM600650
Desc
Variant0002
Relatedalso
ClinVar
Risk rs74315294(T;T)
Alt rs74315294(T;T)
Reference rs74315294(C;C)
Significance Pathogenic
Disease Carnitine palmitoyltransferase II deficiency not provided Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency
Variation info
Gene CPT2
CLNDBN Carnitine palmitoyltransferase II deficiency, late-onset not provided Carnitine palmitoyltransferase II deficiency, lethal neonatal Carnitine palmitoyltransferase II deficiency
Reversed 0
HGVS NC_000001.10:g.53668099C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000009510.4, RCV000185836.2, RCV000194764.1, RCV000202499.1,