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Variant (rsID / SNP)

rs72555358

GLB1

rs72555358 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLB1. Location: chromosome 3, position 33,114,136. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GLB1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:33114136
Cytoband
3p22.3
HGVS
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys)
Allele change
Missense_R49C

Associated conditions / phenotypes

Infantile GM1 gangliosidosis|GM1 gangliosidosis type 3|GM1 gangliosidosis type 2|Mucopolysaccharidosis, MPS-IV-B|Infantile GM1 gangliosidosis|GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B|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.