Variant (rsID / SNP)

rs371546950

rs371546950 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLB1. Location: chromosome 3, position 33,093,480. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GLB1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:33093480
Cytoband: 3p22.3
HGVS: NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys)
Allele change: Missense_Y139C

Associated conditions / phenotypes

Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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