Variant (rsID / SNP)

rs149606212

rs149606212 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GUSB. Location: chromosome 7, position 65,444,841. Clinical significance in the table: Uncertain significance; other.

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Reference-table entries

GUSBUncertain significance

Clinical significance (as recorded): Uncertain significance; other
Variant type: single nucleotide variant
Chromosome / position: 7:65444841
Cytoband: 7q11.21
HGVS: NM_000181.4(GUSB):c.454G>A (p.Asp152Asn)
Allele change: Silent

Associated conditions / phenotypes

Mucopolysaccharidosis type 7|Intellectual disability

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.