Variant (rsID / SNP)
rs864622269
rs864622269 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATL1. Location: chromosome 14, position 51,095,112. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
ATL1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:51095112
- Cytoband
- 14q22.1
- HGVS
- NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp)
- Allele change
- Missense_R495W
Associated conditions / phenotypes
Hereditary spastic paraplegia 3A|Inborn genetic diseases|Hereditary spastic paraplegia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.