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rs515726175

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common/normal
(A;G) 3 carrier of one carnitine palmitoyltransferase II deficiency allele
(G;G) 5 Carnitine palmitoyltransferase II deficiency (predicted)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position53210657
GeneCPT2
is asnp
is mentioned by
dbSNPrs515726175
ebirs515726175
HLIrs515726175
Exacrs515726175
Varsomers515726175
Maprs515726175
PheGenIrs515726175
hapmaprs515726175
1000 genomesrs515726175
hgdprs515726175
ensemblrs515726175
gopubmedrs515726175
geneviewrs515726175
scholarrs515726175
googlers515726175
pharmgkbrs515726175
gwascentralrs515726175
openSNPrs515726175
23andMers515726175
23andMe allrs515726175
SNP Nexus

SNPshotrs515726175
SNPdbers515726175
MSV3drs515726175
GWAS Ctlgrs515726175
Max Magnitude5
aka c.983A>G, p.Asp328Gly or K328G

reported in ClinVar as pathogenic for carnitine palmitoyltransferase II deficiency

ClinVar
Risk rs515726175(G;G)
Alt rs515726175(G;G)
Reference rs515726175(A;A)
Significance Pathogenic
Disease Carnitine palmitoyltransferase II deficiency
Variation info
Gene CPT2
CLNDBN Carnitine palmitoyltransferase II deficiency
Reversed 0
HGVS NC_000001.10:g.53676329A>G
CLNSRC
CLNACC RCV000202505.1,