| Variant ID | 29375 |
|---|---|
| Entrez Gene ID | 84203 |
| Gene | TXNDC2 (GeneCards) |
| Location | hg19 18:9887371-9887371
hg38 18:9887374-9887374 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000018.9:g.9887371 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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0.0033 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs200059339 |
| Variant IDs in COSMIC (version 89) | 6333776 |
| Variant occurences in COSMIC | 1(liver)|1(skin) |
| EIGEN score | -1.6186 |
| CADD Raw score (version 1.3) | -0.701803 (Deleterious) |
| FATHMM raw prediction score | 0.00019 (Tolerated) |
| SIFT score | 1 (Tolerated) |
| LRT score | 0.053 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | -0.95 (Tolerated) |
| PROVEAN score | 0.23 (Tolerated) |
| MetaSVM score | -1.007 (Tolerated) |
| MetaLR score | 0.013 (Tolerated) |
| MCAP score | 0.003 (Tolerated) |
| FitCons score | 0.549 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -7.94 |
| PhyloP score based on multiple alignment of 100 vertebrates | -1.603 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 1.25 |
| Deleterious probability by iFish2 | 0.0027 (Neutral) |
| Deleterious probability by DeFine | 0.5458 (Deleterious) |
| Entrez Gene ID | 84203 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TXNDC2 (GeneCards) |
| Number of variants in TXNDC2 in this database | 1 (view all the variants) |
| Full name | thioredoxin domain containing 2 |
| Band | 18p11.22 |
| Other IDs | Vega: OTTHUMG00000131602 OMIM: 617790 HGNC: HGNC:16470 Ensembl: ENSG00000168454 |
| Other names | SPTRX, SPTRX1 |
| Summary | None |
| Individual ID | 28714951.51 (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; |