rs72555391
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 6 | Mucopolysaccharidosis Type IVB |
| (A;G) | 3 | carrier of a Mucopolysaccharidosis Type IVB allele |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 33016743 |
| Gene | GLB1, LOC107986073 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72555391 |
| dbSNP (classic) | rs72555391 |
| ClinGen | rs72555391 |
| ebi | rs72555391 |
| HLI | rs72555391 |
| Exac | rs72555391 |
| Gnomad | rs72555391 |
| Varsome | rs72555391 |
| LitVar | rs72555391 |
| Map | rs72555391 |
| PheGenI | rs72555391 |
| Biobank | rs72555391 |
| 1000 genomes | rs72555391 |
| hgdp | rs72555391 |
| ensembl | rs72555391 |
| geneview | rs72555391 |
| scholar | rs72555391 |
| rs72555391 | |
| pharmgkb | rs72555391 |
| gwascentral | rs72555391 |
| openSNP | rs72555391 |
| 23andMe | rs72555391 |
| SNPshot | rs72555391 |
| SNPdbe | rs72555391 |
| MSV3d | rs72555391 |
| GWAS Ctlg | rs72555391 |
| Max Magnitude | 6 |
rs72555391, also known as R482H or Arg482His, is a SNP in the galactosidase, beta 1 GLB1 gene.
Two defective alleles in the GLB1 can lead to Mucopolysaccharidosis type IVB, and the rs72555391(A) allele is considered such a causative allele. However, clinical symptoms vary widely between individuals.[PMID 1921082]
| ClinVar | |
|---|---|
| Risk | Rs72555391(A;A) |
| Alt | Rs72555391(A;A) |
| Reference | Rs72555391(G;G) |
| Significance | Pathogenic |
| Disease | Infantile GM1 gangliosidosis Mucopolysaccharidosis not provided GM1 gangliosidosis type 2 Gangliosidosis GM1 type 3 |
| Variation | info |
| Gene | TMPPE GLB1 |
| CLNDBN | Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B not provided GM1 gangliosidosis type 2 Gangliosidosis GM1 type 3 |
| Reversed | 1 |
| HGVS | NC_000003.11:g.33058235C>T |
| CLNSRC | HGMD OMIM Allelic Variant |
| CLNACC | RCV000000981.2, RCV000119099.2, RCV000153327.2, RCV000174679.1, RCV000174680.1, |
[PMID 1487238] A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient.
[PMID 1928092
] Human beta-galactosidase gene mutations in morquio B disease.
[PMID 8500799] A beta-galactosidase gene mutation identified in both Morquio B disease and infantile GM1 gangliosidosis.
