rs2086687862

This variant is located in the NPC2 gene.

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ClinVar annotation

Likely Pathogenic★☆☆☆
1 submitter

Niemann-Pick disease, type C2

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About NPC2

This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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