Gene entry
NPC2
NPC intracellular cholesterol transporter 2
- Chromosome
- 14
- Cytoband
- 14q24.3
- Variants (rsID)
- 11
NPC2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q24.3). Its official name is “NPC intracellular cholesterol transporter 2”. The reference table lists 11 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs189666920Benignsingle nucleotide variantNiemann-Pick disease, type C1|Niemann-Pick disease, type C2
- rs80358260Pathogenicsingle nucleotide variantNiemann-Pick disease, type C2|Niemann-Pick disease, type C
- rs80358261Pathogenicsingle nucleotide variantNiemann-Pick disease, type C2
- rs80358264Pathogenicsingle nucleotide variantNiemann-Pick disease, type C2
- rs142075589Uncertain significancesingle nucleotide variantNiemann-Pick disease, type C1|Niemann-Pick disease, type C2
- rs80358265Uncertain significanceDeletionNiemann-Pick disease, type C2
- rs8021664Not classifieddownstream_gene_variant
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.