Variant (rsID / SNP)

rs117250367

rs117250367 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZFYVE26. Location: chromosome 14, position 68,234,497. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ZFYVE26Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:68234497
Cytoband: 14q24.1
HGVS: NM_015346.4(ZFYVE26):c.5714C>G (p.Ala1905Gly)
Allele change: Missense_A1905G

Associated conditions / phenotypes

Spastic paraplegia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.