| Variant ID | 15831 |
|---|---|
| Entrez Gene ID | 6653 |
| Gene | SORL1 (GeneCards) |
| Location | hg19 11:121443072-121443072
hg38 11:121572363-121572363 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.121443072 C>G (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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.095617 (Deleterious) |
| FATHMM raw prediction score | 0.24463 (Tolerated) |
| Deleterious probability by DeFine | 0.8439 (Deleterious) |
| Entrez Gene ID | 6653 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SORL1 (GeneCards) |
| Number of variants in SORL1 in this database | 9 (view all the variants) |
| Full name | sortilin related receptor 1 |
| Band | 11q24.1 |
| Other IDs | Vega: OTTHUMG00000166057 OMIM: 602005 HGNC: HGNC:11185 Ensembl: ENSG00000137642 |
| Other names | LR11, LRP9, SORLA, gp250, SorLA-1, C11orf32 |
| Summary | This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded preproprotein is proteolytically processed to generate the mature receptor, which likely plays roles in endocytosis and sorting. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, Feb 2016] |
| Individual ID | 29217584.17 (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; |