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rs72555391

From SNPedia

Orientationminus
Stabilizedminus
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
ReferenceGRCh38 38.1/141
Chromosome3
Position33016743
GeneGLB1
is asnp
is mentioned by
dbSNPrs72555391
ebirs72555391
HLIrs72555391
Exacrs72555391
Varsomers72555391
Maprs72555391
PheGenIrs72555391
hapmaprs72555391
1000 genomesrs72555391
hgdprs72555391
ensemblrs72555391
gopubmedrs72555391
geneviewrs72555391
scholarrs72555391
googlers72555391
pharmgkbrs72555391
gwascentralrs72555391
openSNPrs72555391
23andMers72555391
23andMe allrs72555391
SNP Nexus

SNPshotrs72555391
SNPdbers72555391
MSV3drs72555391
GWAS Ctlgrs72555391
Max Magnitude6

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]

OMIM611458
Desc
Variant0010
Relatedalso


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 1928092OA-icon.png] 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.