Variant (rsID / SNP)

rs143624283

rs143624283 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AP4E1. Location: chromosome 15, position 51,207,680. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AP4E1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 15:51207680
Cytoband: 15q21.2
HGVS: NM_007347.5(AP4E1):c.258T>C (p.Tyr86=)
Allele change: Synonymous_Y11Y

Associated conditions / phenotypes

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.