Variant (rsID / SNP)

rs200957609

rs200957609 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AP5Z1. Location: chromosome 7, position 4,824,629. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AP5Z1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 7:4824629
Cytoband: 7p22.1
HGVS: NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln)
Allele change: Silent

Associated conditions / phenotypes

Hereditary spastic paraplegia 48|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.