Gene entry
SQSTM1
sequestosome 1
- Chromosome
- 5
- Cytoband
- 5q35.3
- Variants (rsID)
- 15
SQSTM1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q35.3). Its official name is “sequestosome 1”. The reference table lists 15 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs10277Benignsingle nucleotide variantPaget disease of bone 3
- rs11548633Benignsingle nucleotide variantFrontotemporal dementia and/or amyotrophic lateral sclerosis 1|Paget disease of bone 2, early-onset|Paget disease of bone 3
- rs104893941Conflicting interpretationssingle nucleotide variantPaget disease of bone 3|Frontotemporal dementia and/or amyotrophic lateral sclerosis 3|Frontotemporal dementia and/or amyotrophic lateral sclerosis 3|Paget disease of bone 3|Spastic paraplegia-Paget disease of bone syndrome|Frontotemporal dementia and/or amyotrophic lateral sclerosis 1|Paget disease of bone 2, early-onset
- rs776749939Conflicting interpretationssingle nucleotide variantFrontotemporal dementia and/or amyotrophic lateral sclerosis 3|Frontotemporal dementia and/or amyotrophic lateral sclerosis 1|Paget disease of bone 2, early-onset
- rs182522590Likely benignsingle nucleotide variantFrontotemporal dementia and/or amyotrophic lateral sclerosis 1|Paget disease of bone 2, early-onset
- rs181263868Uncertain significancesingle nucleotide variantFrontotemporal dementia and/or amyotrophic lateral sclerosis 1|Paget disease of bone 2, early-onset
- rs200551825Uncertain significancesingle nucleotide variantFrontotemporal dementia and/or amyotrophic lateral sclerosis 1|Paget disease of bone 2, early-onset
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.