Variant (rsID / SNP)

rs74807133

rs74807133 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AP4S1. Location: chromosome 14, position 31,549,832. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

AP4S1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:31549832
Cytoband: 14q12
HGVS: NM_001128126.3(AP4S1):c.306+42G>A
Allele change: Silent

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.