Variant (rsID / SNP)
rs193244014
rs193244014 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZFYVE26. Location: chromosome 14, position 68,241,828. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ZFYVE26Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:68241828
- Cytoband
- 14q24.1
- HGVS
- NM_015346.4(ZFYVE26):c.5225C>G (p.Ser1742Cys)
- Allele change
- Missense_S1742C
Associated conditions / phenotypes
Hereditary spastic paraplegia 15|Spastic paraplegia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
