| Variant ID | 13903 |
|---|---|
| Entrez Gene ID | 22986 |
| Gene | SORCS3 (GeneCards) |
| Location | hg19 10:107082359-107082359
hg38 10:105322601-105322601 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.107082359 T>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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3448 |
| CADD Raw score (version 1.3) | 0.208669 (Deleterious) |
| FATHMM raw prediction score | 0.07116 (Tolerated) |
| Deleterious probability by DeFine | 0.0835 (Neutral) |
| Entrez Gene ID | 22986 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SORCS3 (GeneCards) |
| Number of variants in SORCS3 in this database | 12 (view all the variants) |
| Full name | sortilin related VPS10 domain containing receptor 3 |
| Band | 10q25.1 |
| Other IDs | Vega: OTTHUMG00000019011 OMIM: 606285 HGNC: HGNC:16699 Ensembl: ENSG00000156395 |
| Other names | SORCS |
| Summary | This gene encodes a type-I receptor transmembrane protein that is a member of the vacuolar protein sorting 10 receptor family. Proteins of this family are defined by a vacuolar protein sorting 10 domain at the N-terminus. The N-terminal segment of this domain has a consensus motif for proprotein convertase processing, and the C-terminal segment of this domain is characterized by ten conserved cysteine residues. The vacuolar protein sorting 10 domain is followed by a leucine-rich segment, a transmembrane domain, and a short C-terminal cytoplasmic domain that interacts with adaptor molecules. The transcript is expressed at high levels in the brain, and candidate gene studies suggest that genetic variation in this gene is associated with Alzheimer's disease. Consistent with this observation, knockdown of the gene in cell culture results in an increase in amyloid precursor protein processing. [provided by RefSeq, Dec 2014] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |