Variant (rsID / SNP)

rs200551825

rs200551825 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SQSTM1. Location: chromosome 5, position 179,263,448. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SQSTM1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:179263448
Cytoband: 5q35.3
HGVS: NM_003900.5(SQSTM1):c.1178G>A (p.Arg393Gln)
Allele change: Missense_R309Q

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.