| Variant ID | 29357 |
|---|---|
| Entrez Gene ID | 285849 |
| Gene | COX6A1P2 (GeneCards) |
| Location | hg19 6:37012761-37012761
hg38 6:37044985-37044985 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000006.11:g.37012761 C>G (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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7187 |
| CADD Raw score (version 1.3) | 0.255531 (Deleterious) |
| FATHMM raw prediction score | 0.93075 (Tolerated) |
| Deleterious probability by DeFine | 0.9212 (Deleterious) |
| Entrez Gene ID | 285849 (NCBI Gene) |
|---|---|
| Official Gene Symbol | COX6A1P2 (GeneCards) |
| Number of variants in COX6A1P2 in this database | 1 (view all the variants) |
| Full name | cytochrome c oxidase subunit 6A1 pseudogene 2 |
| Band | 6p21.2 |
| Other IDs | HGNC: HGNC:35239 |
| Other names | None |
| Summary | None |
| Individual ID | 28714951.33 (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; |