Variant (rsID / SNP)

rs11772411

rs11772411 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AP5Z1. Location: chromosome 7, position 4,825,307. Clinical significance in the table: Benign.

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Reference-table entries

AP5Z1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:4825307
Cytoband: 7p22.1
HGVS: NM_014855.3(AP5Z1):c.1124T>A (p.Leu375Gln)
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.