| Variant ID | 16836 |
|---|---|
| Entrez Gene ID | 338821 |
| Gene | SLCO1B7 (GeneCards) |
| Location | hg19 12:21216919-21216919
hg38 12:21063985-21063985 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.21216919 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2136 |
| CADD Raw score (version 1.3) | -0.083877 (Deleterious) |
| FATHMM raw prediction score | 0.08109 (Tolerated) |
| Deleterious probability by DeFine | 0.1378 (Neutral) |
| Entrez Gene ID | 338821 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLCO1B7 (GeneCards) |
| Number of variants in SLCO1B7 in this database | 4 (view all the variants) |
| Full name | solute carrier organic anion transporter family member 1B7 (putative) |
| Band | 12p12.2 |
| Other IDs | Vega: OTTHUMG00000169045 HGNC: HGNC:32934 Ensembl: ENSG00000205754 |
| Other names | LST3, LST-3, SLC21A21, LST-3TM12 |
| Summary | None |
| Individual ID | 29217584.15 (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; |