Variant (rsID / SNP)

rs1217401

rs1217401 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AP4B1. Location: chromosome 1, position 114,438,951. Clinical significance in the table: Benign.

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Reference-table entries

AP4B1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:114438951
Cytoband: 1p13.2
HGVS: NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser)
Allele change: Silent

Associated conditions / phenotypes

History of neurodevelopmental disorder|Hereditary spastic paraplegia 47|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.