rs1352203929
This variant is located in the NPC2 gene.
▶ClinVar annotation
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]
View all NPC2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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