rs34940801
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs34940801(A;A) |
| Make rs34940801(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 12 |
| Position | 101757571 |
| Gene | GNPTAB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34940801 |
| dbSNP (classic) | rs34940801 |
| ClinGen | rs34940801 |
| ebi | rs34940801 |
| HLI | rs34940801 |
| Exac | rs34940801 |
| Gnomad | rs34940801 |
| Varsome | rs34940801 |
| LitVar | rs34940801 |
| Map | rs34940801 |
| PheGenI | rs34940801 |
| Biobank | rs34940801 |
| 1000 genomes | rs34940801 |
| hgdp | rs34940801 |
| ensembl | rs34940801 |
| geneview | rs34940801 |
| scholar | rs34940801 |
| rs34940801 | |
| pharmgkb | rs34940801 |
| gwascentral | rs34940801 |
| openSNP | rs34940801 |
| 23andMe | rs34940801 |
| SNPshot | rs34940801 |
| SNPdbe | rs34940801 |
| MSV3d | rs34940801 |
| GWAS Ctlg | rs34940801 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34940801(A;A) |
| Alt | rs34940801(A;A) |
| Reference | Rs34940801(G;G) |
| Significance | Pathogenic |
| Disease | I cell disease |
| Variation | info |
| Gene | GNPTAB |
| CLNDBN | I cell disease |
| Reversed | 1 |
| HGVS | NC_000012.11:g.102151349C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000002901.5, |
[PMID 16200072] Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.
[PMID 16465621
] Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.
