rs386134204
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs386134204(-;-) |
| Make rs386134204(-;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 132385481 |
| Gene | SLC22A5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386134204 |
| dbSNP (classic) | rs386134204 |
| ClinGen | rs386134204 |
| ebi | rs386134204 |
| HLI | rs386134204 |
| Exac | rs386134204 |
| Gnomad | rs386134204 |
| Varsome | rs386134204 |
| LitVar | rs386134204 |
| Map | rs386134204 |
| PheGenI | rs386134204 |
| Biobank | rs386134204 |
| 1000 genomes | rs386134204 |
| hgdp | rs386134204 |
| ensembl | rs386134204 |
| geneview | rs386134204 |
| scholar | rs386134204 |
| rs386134204 | |
| pharmgkb | rs386134204 |
| gwascentral | rs386134204 |
| openSNP | rs386134204 |
| 23andMe | rs386134204 |
| SNPshot | rs386134204 |
| SNPdbe | rs386134204 |
| MSV3d | rs386134204 |
| GWAS Ctlg | rs386134204 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs386134204(-;-) |
| Alt | rs386134204(-;-) |
| Reference | Rs386134204(T;T) |
| Significance | Pathogenic |
| Disease | Renal carnitine transport defect not provided |
| Variation | info |
| Gene | SLC22A5 |
| CLNDBN | Renal carnitine transport defect not provided |
| Reversed | 0 |
| HGVS | NC_000005.9:g.131721173delT |
| CLNSRC | ClinVar |
| CLNACC | RCV000022345.2, RCV000299145.1, |
[PMID 12409266] Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency.
