rs72555392
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs72555392(A;A) |
| Make rs72555392(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 33072613 |
| Gene | GLB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72555392 |
| dbSNP (classic) | rs72555392 |
| ClinGen | rs72555392 |
| ebi | rs72555392 |
| HLI | rs72555392 |
| Exac | rs72555392 |
| Gnomad | rs72555392 |
| Varsome | rs72555392 |
| LitVar | rs72555392 |
| Map | rs72555392 |
| PheGenI | rs72555392 |
| Biobank | rs72555392 |
| 1000 genomes | rs72555392 |
| hgdp | rs72555392 |
| ensembl | rs72555392 |
| geneview | rs72555392 |
| scholar | rs72555392 |
| rs72555392 | |
| pharmgkb | rs72555392 |
| gwascentral | rs72555392 |
| openSNP | rs72555392 |
| 23andMe | rs72555392 |
| SNPshot | rs72555392 |
| SNPdbe | rs72555392 |
| MSV3d | rs72555392 |
| GWAS Ctlg | rs72555392 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs72555392(A;A) |
| Alt | rs72555392(A;A) |
| Reference | Rs72555392(G;G) |
| Significance | Pathogenic |
| Disease | GM1-gangliosidosis Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 not provided Mucopolysaccharidosis Gangliosidosis GM1 type 3 |
| Variation | info |
| Gene | TMPPE GLB1 |
| CLNDBN | GM1-gangliosidosis, type I, with cardiac involvement Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 not provided Mucopolysaccharidosis, MPS-IV-B Gangliosidosis GM1 type 3 |
| Reversed | 1 |
| HGVS | NC_000003.11:g.33114105C>T |
| CLNSRC | HGMD OMIM Allelic Variant |
| CLNACC | RCV000000994.2, RCV000000995.2, RCV000059350.2, RCV000078708.3, RCV000175600.1, RCV000175601.1, |
[PMID 10737981] beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.
[PMID 17309650] Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2.
