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Variant (rsID / SNP)

rs139163400

ZFYVE26

rs139163400 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZFYVE26. Location: chromosome 14, position 68,229,462. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ZFYVE26Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:68229462
Cytoband
14q24.1
HGVS
NM_015346.4(ZFYVE26):c.6086T>C (p.Ile2029Thr)
Allele change
Missense_I2029T

Associated conditions / phenotypes

Spastic paraplegia|Hereditary spastic paraplegia 15|Hereditary spastic paraplegia

Public references

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