| Variant ID | 29890 |
|---|---|
| Entrez Gene ID | 123283 |
| Gene | TARSL2 (GeneCards) |
| Location | hg19 15:102242560-102242560
hg38 15:101702357-101702357 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000015.9:g.102242560 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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3127 |
| CADD Raw score (version 1.3) | 5.314179 (Deleterious) |
| FATHMM raw prediction score | 0.99342 (Tolerated) |
| SIFT score | 0.016 (Deleterious) |
| LRT score | 0 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.175 (Tolerated) |
| PROVEAN score | -1.9 (Tolerated) |
| MetaSVM score | -0.978 (Tolerated) |
| MetaLR score | 0.12 (Tolerated) |
| MCAP score | 0.004 (Tolerated) |
| FitCons score | 0.615 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.48 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.716 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.865 |
| Deleterious probability by iFish2 | 0.7918 (Deleterious) |
| Deleterious probability by DeFine | 0.9464 (Deleterious) |
| Entrez Gene ID | 123283 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TARSL2 (GeneCards) |
| Number of variants in TARSL2 in this database | 2 (view all the variants) |
| Full name | threonyl-tRNA synthetase like 2 |
| Band | 15q26.3 |
| Other IDs | Vega: OTTHUMG00000149869 HGNC: HGNC:24728 Ensembl: ENSG00000185418 |
| Other names | None |
| Summary | None |
| Individual ID | 28867142.18 (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; |