{{Rsnum
|rsid=80358259
|Chromosome=18
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=NPC1
|position=23536736
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=NPC1
}}{{omim
|id=607623
|rsnum=80358259
|variant=0010
}}{{ClinVar
|rsid=80358259
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=21116700
|CHROM=18
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=NPC1:4864
|GENE_NAME=NPC1
|GENE_ID=4864
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000018.9:g.21116700A>G
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1296; 607623.0010
|CLNSIG=5
|CLNCUI=CN032419
|CLNDBN=Niemann-Pick disease type C1
|Disease=Niemann-Pick disease type C1
|CLNACC=RCV000003101.2
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1296:C3179455:257220:646:66751000
}}{{PMID Auto
|PMID=10521297
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=16098014
|Title=Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
}}

{{PMID Auto
|PMID=18216017
|Title=Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding.
|OA=1
}}