Variant: rs80358252 

    present in Gene: NPC1
    present in Chromosome: 18
    Position on Chromosome: 23561461
    Alleles of this Variant: C/T

rs80358252 in NPC1 gene and Movement Disorders PMID 15459971 2004 A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease.

PMID 22572546 2012 Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.

PMID 9425535 1997 Evidence for independent feedback control of horizontal and vertical saccades from Niemann-Pick type C disease.

PMID 19744920 2010 The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.

PMID 12974729 2003 Niemann-Pick disease type C.

PMID 10521297 1999 Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.

PMID 20525256 2010 Niemann-Pick disease type C.

rs80358252 in NPC1 gene and Muscle hypotonia PMID 9425535 1997 Evidence for independent feedback control of horizontal and vertical saccades from Niemann-Pick type C disease.

PMID 19744920 2010 The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.

PMID 15459971 2004 A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease.

PMID 22572546 2012 Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.

PMID 10521297 1999 Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.

PMID 20525256 2010 Niemann-Pick disease type C.

PMID 12974729 2003 Niemann-Pick disease type C.

rs80358252 in NPC1 gene and Niemann-Pick Disease, Type C1 PMID 16098014 2005 Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.

PMID 16126423 2006 Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.

PMID 15774455 2005 Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C.

PMID 11182931 2000 Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts.

PMID 25131710 2014 The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations.

PMID 9211849 1997 Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.

PMID 12554680 2003 Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease.

PMID 11754101 2002 NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.

PMID 11479732 2001 Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.

PMID 12955717 2003 Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.

PMID 20826119 2010 [Niemann-Pick type C disease: From neonatal cholestasis to neurological degeneration. Different phenotypes].

PMID 11333381 2001 Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

PMID 11349231 2001 Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

PMID 10480349 1999 NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.

PMID 16802107 2006 Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?

PMID 12408188 2002 Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease.

PMID 11545687 2002 Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C.

PMID 9634529 1998 The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.

PMID 10521297 1999 Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.

PMID 12401890 2002 Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.

PMID 27238017 2016 Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.

PMID 10521290 1999 Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain.