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Variant (rsID / SNP)

rs72555391

GLB1

rs72555391 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLB1. Location: chromosome 3, position 33,058,235. Clinical significance in the table: Pathogenic.

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Reference-table entries

GLB1Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:33058235
Cytoband
3p22.3
HGVS
NM_000404.4(GLB1):c.1445G>A (p.Arg482His)
Allele change
Missense_R351H

Associated conditions / phenotypes

Infantile GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis|GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.