Variant (rsID / SNP)
rs77697105
rs77697105 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPG11. Location: chromosome 15, position 44,944,037. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
SPG11Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:44944037
- Cytoband
- 15q21.1
- HGVS
- NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys)
- Allele change
- Missense_E370K
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.
