rs34002892
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (I;I) | 0 | |
| (TC;TC) | 0 | common in complete genomics |
| Make rs34002892(-;-) |
| Make rs34002892(-;TC) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 101753470 |
| Gene | GNPTAB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34002892 |
| dbSNP (classic) | rs34002892 |
| ClinGen | rs34002892 |
| ebi | rs34002892 |
| HLI | rs34002892 |
| Exac | rs34002892 |
| Gnomad | rs34002892 |
| Varsome | rs34002892 |
| LitVar | rs34002892 |
| Map | rs34002892 |
| PheGenI | rs34002892 |
| Biobank | rs34002892 |
| 1000 genomes | rs34002892 |
| hgdp | rs34002892 |
| ensembl | rs34002892 |
| geneview | rs34002892 |
| scholar | rs34002892 |
| rs34002892 | |
| pharmgkb | rs34002892 |
| gwascentral | rs34002892 |
| openSNP | rs34002892 |
| 23andMe | rs34002892 |
| SNPshot | rs34002892 |
| SNPdbe | rs34002892 |
| MSV3d | rs34002892 |
| GWAS Ctlg | rs34002892 |
| Max Magnitude | 0 |
| OMIM | 607840 |
| Desc | N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB |
| Variant | |
| Related | also |
| ClinVar | |
|---|---|
| Risk | rs34002892(-;-) |
| Alt | rs34002892(-;-) |
| Reference | Rs34002892(TC;TC) |
| Significance | Pathogenic |
| Disease | I cell disease Pseudo-Hurler polydystrophy not provided GNPTAB-Related Disorders |
| Variation | info |
| Gene | GNPTAB |
| CLNDBN | I cell disease Pseudo-Hurler polydystrophy not provided GNPTAB-Related Disorders |
| Reversed | 1 |
| HGVS | NC_000012.11:g.102147248_102147249delGA |
| CLNSRC | HGMD OMIM Allelic Variant |
| CLNACC | RCV000002899.8, RCV000002900.6, RCV000082192.5, RCV000380090.1, |
[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.
[PMID 18190596] Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population.
