Gene entry
ATP13A2
ATPase cation transporting 13A2
- Chromosome
- 1
- Cytoband
- 1p36.13
- Variants (rsID)
- 13
ATP13A2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p36.13). Its official name is “ATPase cation transporting 13A2”. The reference table lists 13 variants (rsID) for this gene.
Clinically classified variants
10 reference-table entries with clinical significance.
- rs15786Benignsingle nucleotide variantKufor-Rakeb syndrome
- rs56290406Benignsingle nucleotide variantKufor-Rakeb syndrome|Kufor-Rakeb syndrome|Autosomal recessive spastic paraplegia type 78|History of neurodevelopmental disorder
- rs56367069Benignsingle nucleotide variantAutosomal recessive spastic paraplegia type 78|Kufor-Rakeb syndrome|History of neurodevelopmental disorder|Kufor-Rakeb syndrome
- rs56379718Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Kufor-Rakeb syndrome|Autosomal recessive spastic paraplegia type 78|Kufor-Rakeb syndrome
- rs144557304Conflicting interpretationssingle nucleotide variantKufor-Rakeb syndrome|History of neurodevelopmental disorder|Kufor-Rakeb syndrome|Autosomal recessive spastic paraplegia type 78
- rs148026506Conflicting interpretationssingle nucleotide variantKufor-Rakeb syndrome|Kufor-Rakeb syndrome|Autosomal recessive spastic paraplegia type 78|History of neurodevelopmental disorder
- rs201883464Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Kufor-Rakeb syndrome|Autosomal recessive spastic paraplegia type 78
- rs150519745Likely pathogenicsingle nucleotide variantKufor-Rakeb syndrome
- rs142616130Uncertain significancesingle nucleotide variantKufor-Rakeb syndrome
- rs200924194Uncertain significancesingle nucleotide variantAutosomal recessive spastic paraplegia type 78|History of neurodevelopmental disorder|Kufor-Rakeb syndrome|Autosomal recessive spastic paraplegia type 78|Kufor-Rakeb syndrome
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.