Variant (rsID / SNP)
rs117228915
rs117228915 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZFYVE26. Location: chromosome 14, position 68,265,135. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
ZFYVE26Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:68265135
- Cytoband
- 14q24.1
- HGVS
- NM_015346.4(ZFYVE26):c.1844C>T (p.Ser615Phe)
- Allele change
- Missense_S615F
Associated conditions / phenotypes
Spastic paraplegia|Hereditary spastic paraplegia 15|Hereditary spastic paraplegia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
