Gene entry
PPT1
palmitoyl-protein thioesterase 1
- Chromosome
- 1
- Cytoband
- 1p34.2
- Variants (rsID)
- 24
PPT1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p34.2). Its official name is “palmitoyl-protein thioesterase 1”. The reference table lists 24 variants (rsID) for this gene.
Clinically classified variants
17 reference-table entries with clinical significance.
- rs1800205Benignsingle nucleotide variantNeuronal ceroid lipofuscinosis 1|History of neurodevelopmental disorder
- rs72937434Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Neuronal ceroid lipofuscinosis 1
- rs386833639Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis 1
- rs386833640Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis 1
- rs386833646Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis 1
- rs137852695Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 1|Inborn genetic diseases|Neuronal ceroid lipofuscinosis
- rs137852696Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 1|Retinitis pigmentosa
- rs137852697Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 1
- rs137852699Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 1|History of neurodevelopmental disorder
- rs137852700Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 1|Neuronal Ceroid-Lipofuscinosis, Recessive|Neuronal ceroid lipofuscinosis|History of neurodevelopmental disorder
- rs148412181Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 1|Neuronal ceroid lipofuscinosis|Global developmental delay
- rs386833635PathogenicDeletionNeuronal ceroid lipofuscinosis 1
- rs386833642Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 1
- rs386833650Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 1
- rs386833655Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 1
- rs386833661Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 1|Neuronal ceroid lipofuscinosis|Spastic ataxia
- rs386833664Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 1
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.