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Variant (rsID / SNP)

rs104893941

SQSTM1

rs104893941 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SQSTM1. Location: chromosome 5, position 179,263,445. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SQSTM1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:179263445
Cytoband
5q35.3
HGVS
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)
Allele change
Missense_P308L

Associated conditions / phenotypes

Paget 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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.