rs386833424
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (ACACA;ACACA) | 0 | common in clinvar |
| Make rs386833424(-;-) |
| Make rs386833424(-;ACACA) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 177439597 |
| Gene | AGA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386833424 |
| dbSNP (classic) | rs386833424 |
| ClinGen | rs386833424 |
| ebi | rs386833424 |
| HLI | rs386833424 |
| Exac | rs386833424 |
| Gnomad | rs386833424 |
| Varsome | rs386833424 |
| LitVar | rs386833424 |
| Map | rs386833424 |
| PheGenI | rs386833424 |
| Biobank | rs386833424 |
| 1000 genomes | rs386833424 |
| hgdp | rs386833424 |
| ensembl | rs386833424 |
| geneview | rs386833424 |
| scholar | rs386833424 |
| rs386833424 | |
| pharmgkb | rs386833424 |
| gwascentral | rs386833424 |
| openSNP | rs386833424 |
| 23andMe | rs386833424 |
| SNPshot | rs386833424 |
| SNPdbe | rs386833424 |
| MSV3d | rs386833424 |
| GWAS Ctlg | rs386833424 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs386833424(-;-) |
| Alt | rs386833424(-;-) |
| Reference | Rs386833424(ACACA;ACACA) |
| Significance | Probable-Pathogenic |
| Disease | Aspartylglycosaminuria |
| Variation | info |
| Gene | AGA |
| CLNDBN | Aspartylglycosaminuria |
| Reversed | 1 |
| HGVS | NC_000004.11:g.178360751_178360755delTGTGT |
| CLNSRC | ClinVar |
| CLNACC | RCV000049352.1, |
[PMID 8457202
] Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient.
[PMID 11309371] Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.
