Variant (rsID / SNP)

rs3743044

rs3743044 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USP8. Location: chromosome 15, position 50,773,787. Clinical significance in the table: Benign.

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Reference-table entries

USP8Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:50773787
Cytoband: 15q21.2
HGVS: NM_005154.5(USP8):c.1328A>G (p.Asp443Gly)
Allele change: Missense_D443G

Associated conditions / phenotypes

Hereditary spastic paraplegia

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.