rs80338737
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80338737(A;A) |
| Make rs80338737(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 45369364 |
| Gene | GATM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338737 |
| dbSNP (classic) | rs80338737 |
| ClinGen | rs80338737 |
| ebi | rs80338737 |
| HLI | rs80338737 |
| Exac | rs80338737 |
| Gnomad | rs80338737 |
| Varsome | rs80338737 |
| LitVar | rs80338737 |
| Map | rs80338737 |
| PheGenI | rs80338737 |
| Biobank | rs80338737 |
| 1000 genomes | rs80338737 |
| hgdp | rs80338737 |
| ensembl | rs80338737 |
| geneview | rs80338737 |
| scholar | rs80338737 |
| rs80338737 | |
| pharmgkb | rs80338737 |
| gwascentral | rs80338737 |
| openSNP | rs80338737 |
| 23andMe | rs80338737 |
| SNPshot | rs80338737 |
| SNPdbe | rs80338737 |
| MSV3d | rs80338737 |
| GWAS Ctlg | rs80338737 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80338737(A;A) rs80338737(T;T) |
| Alt | rs80338737(A;A) rs80338737(T;T) |
| Reference | Rs80338737(G;G) |
| Significance | Pathogenic |
| Disease | Arginine:glycine amidinotransferase deficiency |
| Variation | info |
| Gene | GATM |
| CLNDBN | Arginine:glycine amidinotransferase deficiency |
| Reversed | 1 |
| HGVS | NC_000015.9:g.45661562C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007725.3, |
[PMID 11555793
] Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans.
[PMID 12468279] Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree.
