Variant (rsID / SNP)

rs147369435

rs147369435 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AP5Z1. Location: chromosome 7, position 4,830,879. Clinical significance in the table: Uncertain significance.

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Reference-table entries

AP5Z1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:4830879
Cytoband: 7p22.1
HGVS: NM_014855.3(AP5Z1):c.2287G>A (p.Val763Met)
Allele change: Silent

Associated conditions / phenotypes

Hereditary spastic paraplegia 48

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.