Variant (rsID / SNP)
rs776749939
rs776749939 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SQSTM1. Location: chromosome 5, position 179,260,777. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SQSTM1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:179260777
- Cytoband
- 5q35.3
- HGVS
- NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu)
- Allele change
- Missense_P303L
Associated conditions / phenotypes
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3|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.