Variant (rsID / SNP)
rs150761878
rs150761878 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPG11. Location: chromosome 15, position 44,864,966. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SPG11Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:44864966
- Cytoband
- 15q21.1
- HGVS
- NM_025137.4(SPG11):c.6258G>T (p.Leu2086=)
- Allele change
- Synonymous_L1973L
Associated conditions / phenotypes
Hereditary spastic paraplegia 11|Hereditary spastic paraplegia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
