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.