rs386833682
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs386833682(A;T) |
| Make rs386833682(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 49420248 |
| Gene | AMT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386833682 |
| dbSNP (classic) | rs386833682 |
| ClinGen | rs386833682 |
| ebi | rs386833682 |
| HLI | rs386833682 |
| Exac | rs386833682 |
| Gnomad | rs386833682 |
| Varsome | rs386833682 |
| LitVar | rs386833682 |
| Map | rs386833682 |
| PheGenI | rs386833682 |
| Biobank | rs386833682 |
| 1000 genomes | rs386833682 |
| hgdp | rs386833682 |
| ensembl | rs386833682 |
| geneview | rs386833682 |
| scholar | rs386833682 |
| rs386833682 | |
| pharmgkb | rs386833682 |
| gwascentral | rs386833682 |
| openSNP | rs386833682 |
| 23andMe | rs386833682 |
| SNPshot | rs386833682 |
| SNPdbe | rs386833682 |
| MSV3d | rs386833682 |
| GWAS Ctlg | rs386833682 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs386833682(G;G) rs386833682(T;T) |
| Alt | rs386833682(G;G) rs386833682(T;T) |
| Reference | Rs386833682(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Non-ketotic hyperglycinemia |
| Variation | info |
| Gene | AMT |
| CLNDBN | Non-ketotic hyperglycinemia |
| Reversed | 1 |
| HGVS | NC_000003.11:g.49457681T>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000049643.1, |
[PMID 11286506] Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH).
