Variant (rsID / SNP)

rs587776525

rs587776525 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLB1. Location: chromosome 3, position 33,138,501. Clinical significance in the table: Pathogenic.

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Reference-table entries

GLB1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 3:33138501
Cytoband: 3p22.3
HGVS: NM_000404.4(GLB1):c.75+2dup

Associated conditions / phenotypes

Infantile GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis type 3|GM1 gangliosidosis|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.