Variant (rsID / SNP)

rs878855011

rs878855011 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZFYVE26. Location: chromosome 14, position 68,251,926. Clinical significance in the table: Pathogenic.

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Reference-table entries

ZFYVE26Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 14:68251926
Cytoband: 14q24.1
HGVS: NM_015346.4(ZFYVE26):c.3373del (p.His1125fs)

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.