Variant (rsID / SNP)

rs182522590

rs182522590 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SQSTM1. Location: chromosome 5, position 179,260,040. Clinical significance in the table: Likely benign.

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Reference-table entries

SQSTM1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:179260040
Cytoband: 5q35.3
HGVS: NM_003900.5(SQSTM1):c.763G>C (p.Val255Leu)
Allele change: Missense_V171L

Associated conditions / phenotypes

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1|Paget disease of bone 2, early-onset

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.