Variant (rsID / SNP)

rs72555362

rs72555362 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLB1. Location: chromosome 3, position 33,093,471. 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: 3:33093471
Cytoband: 3p22.3
HGVS: NM_000404.4(GLB1):c.818G>T (p.Trp273Leu)
Allele change: Missense_W142L

Associated conditions / phenotypes

Mucopolysaccharidosis, MPS-IV-B

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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