Variant (rsID / SNP)
rs72555360
rs72555360 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLB1. Location: chromosome 3, position 33,099,713. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
GLB1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:33099713
- Cytoband
- 3p22.3
- HGVS
- NM_000404.4(GLB1):c.601C>T (p.Arg201Cys)
- Allele change
- Silent
Associated conditions / phenotypes
GM1 gangliosidosis type 2|GM1 gangliosidosis|Infantile GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis type 3|GM1 gangliosidosis|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.