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rs515726174

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 5 Carnitine palmitoyltransferase II deficiency (predicted)
(C;T) 3 carrier of one carnitine palmitoyltransferase II deficiency allele
(T;T) 0 common/normal
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position53210315
GeneCPT2
is asnp
is mentioned by
dbSNPrs515726174
ebirs515726174
HLIrs515726174
Exacrs515726174
Varsomers515726174
Maprs515726174
PheGenIrs515726174
hapmaprs515726174
1000 genomesrs515726174
hgdprs515726174
ensemblrs515726174
gopubmedrs515726174
geneviewrs515726174
scholarrs515726174
googlers515726174
pharmgkbrs515726174
gwascentralrs515726174
openSNPrs515726174
23andMers515726174
23andMe allrs515726174
SNP Nexus

SNPshotrs515726174
SNPdbers515726174
MSV3drs515726174
GWAS Ctlgrs515726174
Max Magnitude5
aka c.641T>C, p.Met214Thr or M214T

reported in ClinVar as pathogenic for carnitine palmitoyltransferase II deficiency

ClinVar
Risk Rs515726174(C;C)
Alt Rs515726174(C;C)
Reference Rs515726174(T;T)
Significance Pathogenic
Disease Carnitine palmitoyltransferase II deficiency
Variation info
Gene CPT2
CLNDBN Carnitine palmitoyltransferase II deficiency
Reversed 0
HGVS NC_000001.10:g.53675987T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000202541.1,