Variant (rsID / SNP)

rs121918173

rs121918173 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GUSB. Location: chromosome 7, position 65,439,613. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

GUSBLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:65439613
Cytoband: 7q11.21
HGVS: NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys)
Allele change: Silent

Associated conditions / phenotypes

Mucopolysaccharidosis type 7|Non-immune hydrops fetalis

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.