rs140130028
This is a splice region variant variant in the NPC2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
cathepsin H measurement
Allele T
OR 1.31
p 4.0e-30
N 3,301
Large GWAS
European
▶ClinVar annotation
Pathogenic★☆☆☆
19 submitters17 publicationsNPC2-related disorder; Niemann-Pick disease, type C1; Niemann-Pick disease, type C2 (NPC2); not specified
View on ClinVar →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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