Gene entry
ATL1
atlastin GTPase 1
- Chromosome
- 14
- Cytoband
- 14q22.1
- Variants (rsID)
- 10
ATL1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q22.1). Its official name is “atlastin GTPase 1”. The reference table lists 10 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs397514712Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 3A
- rs864622083Likely pathogenicsingle nucleotide variantHereditary spastic paraplegia 3A
- rs119476046Pathogenicsingle nucleotide variantHereditary spastic paraplegia 3A|Neuropathy, hereditary sensory, type 1D|Hereditary spastic paraplegia 3A|Spastic paraplegia|Hereditary spastic paraplegia
- rs119476050Pathogenicsingle nucleotide variantHereditary spastic paraplegia 3A|Inborn genetic diseases
- rs864622269Pathogenicsingle nucleotide variantHereditary spastic paraplegia 3A|Inborn genetic diseases|Hereditary spastic paraplegia
- rs864622520Pathogenicsingle nucleotide variantHereditary spastic paraplegia 3A|Hereditary spastic paraplegia
- rs200314808Uncertain significancesingle nucleotide variantNeuropathy, hereditary sensory, type 1D|Hereditary spastic paraplegia 3A
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.