Variant (rsID / SNP)
rs200440467
rs200440467 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AP4S1. Location: chromosome 14, position 31,542,174. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
AP4S1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:31542174
- Cytoband
- 14q12
- HGVS
- NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)
- Allele change
- Nonsense_R97X
Associated conditions / phenotypes
Spastic paraplegia 52, autosomal recessive|Spastic paraplegia|AP4S1-related disorder|Intellectual disability
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.