rs137852897
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs137852897(C;T) |
| Make rs137852897(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 101753409 |
| Gene | GNPTAB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137852897 |
| dbSNP (classic) | rs137852897 |
| ClinGen | rs137852897 |
| ebi | rs137852897 |
| HLI | rs137852897 |
| Exac | rs137852897 |
| Gnomad | rs137852897 |
| Varsome | rs137852897 |
| LitVar | rs137852897 |
| Map | rs137852897 |
| PheGenI | rs137852897 |
| Biobank | rs137852897 |
| 1000 genomes | rs137852897 |
| hgdp | rs137852897 |
| ensembl | rs137852897 |
| geneview | rs137852897 |
| scholar | rs137852897 |
| rs137852897 | |
| pharmgkb | rs137852897 |
| gwascentral | rs137852897 |
| openSNP | rs137852897 |
| 23andMe | rs137852897 |
| SNPshot | rs137852897 |
| SNPdbe | rs137852897 |
| MSV3d | rs137852897 |
| GWAS Ctlg | rs137852897 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137852897(T;T) |
| Alt | rs137852897(T;T) |
| Reference | Rs137852897(C;C) |
| Significance | Pathogenic |
| Disease | I cell disease Pseudo-Hurler polydystrophy |
| Variation | info |
| Gene | GNPTAB |
| CLNDBN | I cell disease Pseudo-Hurler polydystrophy |
| Reversed | 1 |
| HGVS | NC_000012.11:g.102147187G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000002891.5, RCV000002892.5, |
[PMID 16116615] Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.
[PMID 16630736] When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.
