Variant (rsID / SNP)
rs72555366
rs72555366 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLB1. Location: chromosome 3, position 33,099,692. Clinical significance in the table: Pathogenic.
Reference-table entries
GLB1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:33099692
- Cytoband
- 3p22.3
- HGVS
- NM_000404.4(GLB1):c.622C>T (p.Arg208Cys)
- Allele change
- Silent
Associated conditions / phenotypes
Infantile GM1 gangliosidosis|GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis|GM1 gangliosidosis type 2|GM1 gangliosidosis type 3|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.