rs515726175
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| 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) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 1 |
| Position | 53210657 |
| Gene | CPT2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs515726175 |
| dbSNP (classic) | rs515726175 |
| ClinGen | rs515726175 |
| ebi | rs515726175 |
| HLI | rs515726175 |
| Exac | rs515726175 |
| Gnomad | rs515726175 |
| Varsome | rs515726175 |
| LitVar | rs515726175 |
| Map | rs515726175 |
| PheGenI | rs515726175 |
| Biobank | rs515726175 |
| 1000 genomes | rs515726175 |
| hgdp | rs515726175 |
| ensembl | rs515726175 |
| geneview | rs515726175 |
| scholar | rs515726175 |
| rs515726175 | |
| pharmgkb | rs515726175 |
| gwascentral | rs515726175 |
| openSNP | rs515726175 |
| 23andMe | rs515726175 |
| SNPshot | rs515726175 |
| SNPdbe | rs515726175 |
| MSV3d | rs515726175 |
| GWAS Ctlg | rs515726175 |
| Max Magnitude | 5 |
aka c.983A>G, p.Asp328Gly or K328G
reported in ClinVar as pathogenic for carnitine palmitoyltransferase II deficiency
23andMe name: i6009276
| 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, |
