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Variant (rsID / SNP)

rs72555392

GLB1

rs72555392 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLB1. Location: chromosome 3, position 33,114,105. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

GLB1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:33114105
Cytoband
3p22.3
HGVS
NM_000404.4(GLB1):c.176G>A (p.Arg59His)
Allele change
Missense_R59H

Associated conditions / phenotypes

Infantile GM1 gangliosidosis|GM1-gangliosidosis, type I, with cardiac involvement|GM1 gangliosidosis type 2|Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis type 3|GM1 gangliosidosis type 2|Infantile GM1 gangliosidosis|GM1 gangliosidosis type 3|Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis|GLB1-Related Disorders

Public references

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