Variant (rsID / SNP)
rs146986015
rs146986015 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPG21. Location: chromosome 15, position 65,256,042. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SPG21Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:65256042
- Cytoband
- 15q22.31
- HGVS
- NM_016630.7(SPG21):c.846G>A (p.Ala282=)
- Allele change
- Synonymous_A282A
Associated conditions / phenotypes
Mast syndrome|Hereditary spastic paraplegia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
