| Variant ID | 29109 |
|---|---|
| Entrez Gene ID | 85459 |
| Gene | CEP295 (GeneCards) |
| Location | hg19 11:93463107-93463107
hg38 11:93729941-93729941 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | HiSeq Pyrosequencing |
| Mutation(HGVS format) | NC_000011.9:g.93463107 C>CA (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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Deleterious probability by DeFine | 0.5596 (Deleterious) |
| Entrez Gene ID | 85459 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CEP295 (GeneCards) |
| Number of variants in CEP295 in this database | 1 (view all the variants) |
| Full name | centrosomal protein 295 |
| Band | 11q21 |
| Other IDs | Vega: OTTHUMG00000167449 OMIM: 617728 HGNC: HGNC:29366 Ensembl: ENSG00000166004 |
| Other names | KIAA1731 |
| Summary | None |
| Individual ID | 27632392.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27632392 |
| Whose mosaic mutation | 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 | 27632392 |
|---|---|
| Title | The Contribution of Mosaic Variants to Autism Spectrum Disorder |
| Journal | PLoS Genetics |
| Publication date | 2016.09 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 16; |