rs34788341
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs34788341(G;G) |
| Make rs34788341(G;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 12 |
| Position | 101757566 |
| Gene | GNPTAB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34788341 |
| dbSNP (classic) | rs34788341 |
| ClinGen | rs34788341 |
| ebi | rs34788341 |
| HLI | rs34788341 |
| Exac | rs34788341 |
| Gnomad | rs34788341 |
| Varsome | rs34788341 |
| LitVar | rs34788341 |
| Map | rs34788341 |
| PheGenI | rs34788341 |
| Biobank | rs34788341 |
| 1000 genomes | rs34788341 |
| hgdp | rs34788341 |
| ensembl | rs34788341 |
| geneview | rs34788341 |
| scholar | rs34788341 |
| rs34788341 | |
| pharmgkb | rs34788341 |
| gwascentral | rs34788341 |
| openSNP | rs34788341 |
| 23andMe | rs34788341 |
| SNPshot | rs34788341 |
| SNPdbe | rs34788341 |
| MSV3d | rs34788341 |
| GWAS Ctlg | rs34788341 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34788341(G;G) |
| Alt | rs34788341(G;G) |
| Reference | Rs34788341(T;T) |
| Significance | Pathogenic |
| Disease | Pseudo-Hurler polydystrophy Mucopolysaccharidosis I cell disease |
| Variation | info |
| Gene | GNPTAB |
| CLNDBN | Pseudo-Hurler polydystrophy Mucopolysaccharidosis, MPS-III-A I cell disease |
| Reversed | 1 |
| HGVS | NC_000012.11:g.102151344A>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000002902.4, RCV000031982.2, RCV000032336.1, |
[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.
[PMID 16630736] When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.
