Variant (rsID / SNP)

rs11548633

rs11548633 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SQSTM1. Location: chromosome 5, position 179,252,184. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SQSTM1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:179252184
Cytoband: 5q35.3
HGVS: NM_003900.5(SQSTM1):c.712A>G (p.Lys238Glu)
Allele change: Missense_K154E

Associated conditions / phenotypes

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1|Paget disease of bone 2, early-onset|Paget disease of bone 3

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.