Variant (rsID / SNP)

rs140540720

rs140540720 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZFYVE26. Location: chromosome 14, position 68,229,060. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ZFYVE26Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:68229060
Cytoband: 14q24.1
HGVS: NM_015346.4(ZFYVE26):c.6229G>A (p.Gly2077Arg)
Allele change: Missense_G2077R

Associated conditions / phenotypes

Spastic paraplegia|Hereditary spastic paraplegia 15|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.