Variant (rsID / SNP)

rs118204049

rs118204049 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZFYVE26. Location: chromosome 14, position 68,249,557. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ZFYVE26Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:68249557
Cytoband: 14q24.1
HGVS: NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter)
Allele change: Nonsense_R1438X

Associated conditions / phenotypes

Hereditary spastic paraplegia 15|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.