rs74315294
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs74315294(C;T) |
| Make rs74315294(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 53202427 |
| Gene | CPT2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74315294 |
| dbSNP (classic) | rs74315294 |
| ClinGen | rs74315294 |
| ebi | rs74315294 |
| HLI | rs74315294 |
| Exac | rs74315294 |
| Gnomad | rs74315294 |
| Varsome | rs74315294 |
| LitVar | rs74315294 |
| Map | rs74315294 |
| PheGenI | rs74315294 |
| Biobank | rs74315294 |
| 1000 genomes | rs74315294 |
| hgdp | rs74315294 |
| ensembl | rs74315294 |
| geneview | rs74315294 |
| scholar | rs74315294 |
| rs74315294 | |
| pharmgkb | rs74315294 |
| gwascentral | rs74315294 |
| openSNP | rs74315294 |
| 23andMe | rs74315294 |
| SNPshot | rs74315294 |
| SNPdbe | rs74315294 |
| MSV3d | rs74315294 |
| GWAS Ctlg | rs74315294 |
| GMAF | 0.0009183 |
| Max Magnitude | 0 |
minor allele should be reclassified as benign according to [PMID 26990548
]
| 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, myopathic, stress-induced 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 UniProtKB (protein) |
| CLNACC | RCV000009510.6, RCV000185836.3, RCV000194764.1, RCV000202499.2, |
