| Variant ID | 29440 |
|---|---|
| Entrez Gene ID | 6539 |
| Gene | SLC6A12 (GeneCards) |
| Location | hg19 12:306668-306668
hg38 12:197502-197502 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000012.11:g.306668 C>A (Genome Assembly: hg19) |
| 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 | 1.114 |
| CADD Raw score (version 1.3) | 5.488341 (Deleterious) |
| FATHMM raw prediction score | 0.99448 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.057 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.44 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.868 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.273 |
| Deleterious probability by DeFine | 0.9442 (Deleterious) |
| Entrez Gene ID | 6539 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC6A12 (GeneCards) |
| Number of variants in SLC6A12 in this database | 1 (view all the variants) |
| Full name | solute carrier family 6 member 12 |
| Band | 12p13.33 |
| Other IDs | Vega: OTTHUMG00000090309 OMIM: 603080 HGNC: HGNC:11045 Ensembl: ENSG00000111181 |
| Other names | BGT1, GAT2, BGT-1 |
| Summary | None |
| Individual ID | 28714951.116 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |