| Variant ID | 16944 |
|---|---|
| Entrez Gene ID | 28234 |
| Gene | SLCO1B3 (GeneCards) |
| Location | hg19 12:21108874-21108874
hg38 12:20955940-20955940 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.21108874 T>C (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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.7263 |
| CADD Raw score (version 1.3) | -0.667315 (Deleterious) |
| FATHMM raw prediction score | 0.03254 (Tolerated) |
| Deleterious probability by DeFine | 0.1094 (Neutral) |
| Entrez Gene ID | 28234 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLCO1B3 (GeneCards) |
| Number of variants in SLCO1B3 in this database | 5 (view all the variants) |
| Full name | solute carrier organic anion transporter family member 1B3 |
| Band | 12p12.2 |
| Other IDs | Vega: OTTHUMG00000169011 OMIM: 605495 HGNC: HGNC:10961 Ensembl: ENSG00000111700 |
| Other names | LST3, HBLRR, LST-2, OATP8, OATP-8, OATP1B3, SLC21A8, LST-3TM13 |
| Summary | This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. Alternative splicing of this gene and the use of alternative promoters results in transcript variants encoding different isoforms that differ in their tissue specificity. [provided by RefSeq, Mar 2017] |
| Individual ID | 29217584.19 (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; |