| Variant ID | 29423 |
|---|---|
| Entrez Gene ID | 55815 |
| Gene | TSNAXIP1 (GeneCards) |
| Location | hg19 16:67860110-67860110
hg38 16:67826207-67826207 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000016.9:g.67860110 C>T (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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003231 |
|---|---|
| Variant IDs in COSMIC (version 89) | 297725 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | 0.7006 |
| CADD Raw score (version 1.3) | 1.994178 (Deleterious) |
| FATHMM raw prediction score | 0.55635 (Tolerated) |
| Deleterious probability by DeFine | 0.9058 (Deleterious) |
| Entrez Gene ID | 55815 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TSNAXIP1 (GeneCards) |
| Number of variants in TSNAXIP1 in this database | 1 (view all the variants) |
| Full name | translin associated factor X interacting protein 1 |
| Band | 16q22.1 |
| Other IDs | Vega: OTTHUMG00000137545 OMIM: 607720 HGNC: HGNC:18586 Ensembl: ENSG00000102904 |
| Other names | TXI1 |
| Summary | None |
| Individual ID | 28714951.99 (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; |