| Variant ID | 20672 |
|---|---|
| Entrez Gene ID | 4864 |
| Gene | NPC1 (GeneCards) |
| Location | hg19 18:21148968-21148968
hg38 18:23569004-23569004 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.21148968 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.2787 |
| CADD Raw score (version 1.3) | 0.564965 (Deleterious) |
| FATHMM raw prediction score | 0.36741 (Tolerated) |
| Deleterious probability by DeFine | 0.7879 (Deleterious) |
| Entrez Gene ID | 4864 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NPC1 (GeneCards) |
| Number of variants in NPC1 in this database | 1 (view all the variants) |
| Full name | NPC intracellular cholesterol transporter 1 |
| Band | 18q11.2 |
| Other IDs | Vega: OTTHUMG00000131873 OMIM: 607623 HGNC: HGNC:7897 Ensembl: ENSG00000141458 |
| Other names | NPC, POGZ, SLC65A1 |
| Summary | This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |