Variant (rsID / SNP)
rs72555368
rs72555368 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLB1. Location: chromosome 3, position 33,055,784. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
GLB1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:33055784
- Cytoband
- 3p22.3
- HGVS
- NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala)
- Allele change
- Missense_T369A
Associated conditions / phenotypes
Mucopolysaccharidosis, MPS-IV-B|Infantile GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis type 3|GM1 gangliosidosis type 2|GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.