Variant (rsID / SNP)

rs370828455

rs370828455 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZFYVE26. Location: chromosome 14, position 68,249,688. Clinical significance in the table: Pathogenic.

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Reference-table entries

ZFYVE26Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:68249688
Cytoband: 14q24.1
HGVS: NM_015346.4(ZFYVE26):c.4181G>A (p.Trp1394Ter)
Allele change: Nonsense_W1394X

Associated conditions / phenotypes

Hereditary spastic paraplegia 15|Spastic paraplegia|Hereditary 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.