Variant (rsID / SNP)
rs180869784
rs180869784 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLB1. Location: chromosome 3, position 33,060,002. 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
- 3:33060002
- Cytoband
- 3p22.3
- HGVS
- NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser)
- Allele change
- Missense_P298S
Associated conditions / phenotypes
Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis|GM1 gangliosidosis type 3|GM1 gangliosidosis type 2|Mucopolysaccharidosis, MPS-IV-B|Infantile GM1 gangliosidosis|Infantile GM1 gangliosidosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.