| Variant ID | 29473 |
|---|---|
| Entrez Gene ID | 152206 |
| Gene | CCDC13 (GeneCards) |
| Location | hg19 3:42772009-42772009
hg38 3:42730517-42730517 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000003.11:g.42772009 G>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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 6213201 |
| Variant occurences in COSMIC | 1(prostate) |
| EIGEN score | -0.1543 |
| CADD Raw score (version 1.3) | 1.191179 (Deleterious) |
| FATHMM raw prediction score | 0.11759 (Tolerated) |
| Deleterious probability by DeFine | 0.9292 (Deleterious) |
| Entrez Gene ID | 152206 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CCDC13 (GeneCards) |
| Number of variants in CCDC13 in this database | 1 (view all the variants) |
| Full name | coiled-coil domain containing 13 |
| Band | 3p22.1 |
| Other IDs | Vega: OTTHUMG00000133046 HGNC: HGNC:26358 Ensembl: ENSG00000244607 |
| Other names | None |
| Summary | None |
| Individual ID | 28714951.149 (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; |