Variant (rsID / SNP)

rs143286419

rs143286419 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AP4B1. Location: chromosome 1, position 114,442,873. Clinical significance in the table: Likely benign.

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Reference-table entries

AP4B1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:114442873
Cytoband: 1p13.2
HGVS: NM_001253852.3(AP4B1):c.767C>T (p.Thr256Ile)
Allele change: Silent

Associated conditions / phenotypes

Hereditary spastic paraplegia 47|History of neurodevelopmental disorder|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.