| Variant ID | 29925 |
|---|---|
| Entrez Gene ID | 79934 |
| Gene | ADCK4 (GeneCards) |
| Location | hg19 19:41206317-41206317
hg38 19:40700412-40700412 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000019.9:g.41206317 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0.00009687 |
|---|---|
| EIGEN score | 0.1446 |
| CADD Raw score (version 1.3) | 1.715901 (Deleterious) |
| FATHMM raw prediction score | 0.33126 (Tolerated) |
| Deleterious probability by DeFine | 0.9256 (Deleterious) |
| Entrez Gene ID | 79934 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ADCK4 (GeneCards) |
| Number of variants in COQ8B in this database | 2 (view all the variants) |
| Full name | coenzyme Q8B |
| Band | 19q13.2 |
| Other IDs | Vega: OTTHUMG00000182620 OMIM: 615567 HGNC: HGNC:19041 Ensembl: ENSG00000123815 |
| Other names | ADCK4, NPHS9 |
| Summary | This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] |
| Individual ID | 28867142.22 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |