Variant (rsID / SNP)

rs11857513

rs11857513 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USP8. Location: chromosome 15, position 50,789,423. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

USP8Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:50789423
Cytoband: 15q21.2
HGVS: NM_005154.5(USP8):c.3033G>A (p.Leu1011=)
Allele change: Synonymous_L1011L

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.