Gene entry
TPP1
tripeptidyl peptidase 1
- Chromosome
- 11
- Cytoband
- 11p15.4
- Variants (rsID)
- 24
TPP1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11p15.4). Its official name is “tripeptidyl peptidase 1”. The reference table lists 24 variants (rsID) for this gene.
Clinically classified variants
23 reference-table entries with clinical significance.
- rs117942457Benignsingle nucleotide variantNeuronal ceroid lipofuscinosis 2|Seizure
- rs141482368Benignsingle nucleotide variantNeuronal ceroid lipofuscinosis 2
- rs142672910Benignsingle nucleotide variantSeizure
- rs138976576Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis 2|Seizure|Autosomal recessive spinocerebellar ataxia 7|Neuronal ceroid lipofuscinosis 2
- rs140349036Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis 2|Seizure
- rs140726254Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis 2|Seizure
- rs200184958Conflicting interpretationssingle nucleotide variantNeuronal Ceroid-Lipofuscinosis, Recessive
- rs372564255Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis 2
- rs755445790Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis 2
- rs757508432Conflicting interpretationssingle nucleotide variantNeuronal Ceroid-Lipofuscinosis, Recessive
- rs119455953Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 2
- rs119455954Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 2|Neuronal ceroid lipofuscinosis
- rs119455955Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 2|Inborn genetic diseases|Neuronal ceroid lipofuscinosis|Autosomal recessive spinocerebellar ataxia 7|Neuronal ceroid lipofuscinosis 2|Abnormality of the nervous system
- rs119455956Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 2
- rs119455957Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 2|Autosomal recessive spinocerebellar ataxia 7|Neuronal ceroid lipofuscinosis 2
- rs121908195Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 2|Neuronal ceroid lipofuscinosis
- rs121908202Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 2
- rs28940573Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 2
- rs56144125Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 2|Autosomal recessive spinocerebellar ataxia 7|Inborn genetic diseases|Neuronal ceroid lipofuscinosis|Autosomal recessive spinocerebellar ataxia 7|Neuronal ceroid lipofuscinosis 2
- rs886041487PathogenicDeletionNeuronal ceroid lipofuscinosis 2
- rs150039898Uncertain significancesingle nucleotide variantNeuronal ceroid lipofuscinosis|Seizure|Neuronal ceroid lipofuscinosis 2
- rs199866669Uncertain significancesingle nucleotide variantNeuronal ceroid lipofuscinosis 2
- rs202025584Uncertain significancesingle nucleotide variantNeuronal ceroid lipofuscinosis 2
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.