Variant (rsID / SNP)

rs139640763

rs139640763 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AP4E1. Location: chromosome 15, position 51,294,759. Clinical significance in the table: Uncertain significance.

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Reference-table entries

AP4E1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 15:51294759
Cytoband: 15q21.2
HGVS: NM_007347.5(AP4E1):c.3314G>A (p.Arg1105Gln)
Allele change: Missense_R1030Q

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.