Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs72555371

GLB1

rs72555371 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLB1. Location: chromosome 3, position 33,038,799. Clinical significance in the table: Uncertain significance.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

GLB1Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
3:33038799
Cytoband
3p22.3
HGVS
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys)
Allele change
Missense_Y460C

Associated conditions / phenotypes

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

Public references

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