| Variant ID | 29602 |
|---|---|
| Entrez Gene ID | 84629 |
| Gene | TNRC18 (GeneCards) |
| Location | hg19 7:5347862-5347862
hg38 7:5308231-5308231 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000007.13:g.5347862 G>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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.0459 |
| CADD Raw score (version 1.3) | 14.631249 (Deleterious) |
| FATHMM raw prediction score | 0.98595 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.44 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.969 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.647 |
| Deleterious probability by DeFine | 0.9662 (Deleterious) |
| Entrez Gene ID | 84629 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TNRC18 (GeneCards) |
| Number of variants in TNRC18 in this database | 2 (view all the variants) |
| Full name | trinucleotide repeat containing 18 |
| Band | 7p22.1 |
| Other IDs | Vega: OTTHUMG00000151831 HGNC: HGNC:11962 Ensembl: ENSG00000182095 |
| Other names | CAGL79, TNRC18A |
| Summary | None |
| Individual ID | 28714951.278 (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; |