Variant (rsID / SNP)
rs121918175
rs121918175 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GUSB. Location: chromosome 7, position 65,439,910. Clinical significance in the table: Pathogenic.
Reference-table entries
GUSBPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:65439910
- Cytoband
- 7q11.21
- HGVS
- NM_000181.4(GUSB):c.1061C>T (p.Ala354Val)
- Allele change
- Silent
Associated conditions / phenotypes
Mucopolysaccharidosis type 7
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.