| Variant ID | 29856 |
|---|---|
| Entrez Gene ID | 338821 |
| Gene | SLCO1B7 (GeneCards) |
| Location | hg19 12:21200105-21200105
hg38 12:21047171-21047171 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000012.11:g.21200105 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 0.1791 |
| CADD Raw score (version 1.3) | -0.240206 (Deleterious) |
| FATHMM raw prediction score | 0.37705 (Tolerated) |
| Deleterious probability by DeFine | 0.3874 (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 | 28867142.14 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |