rs80356782
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs80356782(C;T) |
| Make rs80356782(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 68804077 |
| Gene | CPT1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356782 |
| dbSNP (classic) | rs80356782 |
| ClinGen | rs80356782 |
| ebi | rs80356782 |
| HLI | rs80356782 |
| Exac | rs80356782 |
| Gnomad | rs80356782 |
| Varsome | rs80356782 |
| LitVar | rs80356782 |
| Map | rs80356782 |
| PheGenI | rs80356782 |
| Biobank | rs80356782 |
| 1000 genomes | rs80356782 |
| hgdp | rs80356782 |
| ensembl | rs80356782 |
| geneview | rs80356782 |
| scholar | rs80356782 |
| rs80356782 | |
| pharmgkb | rs80356782 |
| gwascentral | rs80356782 |
| openSNP | rs80356782 |
| 23andMe | rs80356782 |
| SNPshot | rs80356782 |
| SNPdbe | rs80356782 |
| MSV3d | rs80356782 |
| GWAS Ctlg | rs80356782 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356782(T;T) |
| Alt | rs80356782(T;T) |
| Reference | Rs80356782(C;C) |
| Significance | Pathogenic |
| Disease | Carnitine palmitoyltransferase I deficiency |
| Variation | info |
| Gene | CPT1A |
| CLNDBN | Carnitine palmitoyltransferase I deficiency |
| Reversed | 1 |
| HGVS | NC_000011.9:g.68571545G>A |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000055867.1, |
[PMID 15110323] Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
