| Variant ID | 29246 |
|---|---|
| Entrez Gene ID | 84795 |
| Gene | PYROXD2 (GeneCards) |
| Location | hg19 10:100155122-100155122
hg38 10:98395365-98395365 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000010.10:g.100155122 G>C (Genome Assembly: GRCh37) |
| Exon or Intron | Intron |
|---|---|
| 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3264 |
| CADD Raw score (version 1.3) | -0.224504 (Deleterious) |
| FATHMM raw prediction score | 0.18228 (Tolerated) |
| Deleterious probability by DeFine | 0.7275 (Deleterious) |
| Entrez Gene ID | 84795 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PYROXD2 (GeneCards) |
| Number of variants in PYROXD2 in this database | 1 (view all the variants) |
| Full name | pyridine nucleotide-disulphide oxidoreductase domain 2 |
| Band | 10q24.2 |
| Other IDs | Vega: OTTHUMG00000018877 OMIM: 617889 HGNC: HGNC:23517 Ensembl: ENSG00000119943 |
| Other names | YUEF, FP3420, C10orf33 |
| Summary | None |
| Individual ID | 28503910.123 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |