| Variant ID | 29849 |
|---|---|
| Entrez Gene ID | 143884 |
| Gene | CWF19L2 (GeneCards) |
| Location | hg19 11:107300102-107300102
hg38 11:107429376-107429376 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000011.9:g.107300102 G>T (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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.3758 |
| CADD Raw score (version 1.3) | 1.299797 (Deleterious) |
| FATHMM raw prediction score | 0.94258 (Tolerated) |
| Deleterious probability by DeFine | 0.8517 (Deleterious) |
| Entrez Gene ID | 143884 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CWF19L2 (GeneCards) |
| Number of variants in CWF19L2 in this database | 6 (view all the variants) |
| Full name | CWF19 like cell cycle control factor 2 |
| Band | 11q22.3 |
| Other IDs | Vega: OTTHUMG00000152975 HGNC: HGNC:26508 Ensembl: ENSG00000152404 |
| Other names | None |
| Summary | None |
| Individual ID | 28867142.13 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female 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; |