Variant (rsID / SNP)

rs121918172

rs121918172 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GUSB. Location: chromosome 7, position 65,425,984. Clinical significance in the table: Pathogenic.

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Reference-table entries

GUSBPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:65425984
Cytoband: 7q11.21
HGVS: NM_000181.4(GUSB):c.1856C>T (p.Ala619Val)
Allele change: Silent

Associated conditions / phenotypes

Mucopolysaccharidosis type 7

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.