| Variant ID | 25026 |
|---|---|
| Entrez Gene ID | 285025 |
| Gene | CCDC141 (GeneCards) |
| Location | hg19 2:179770557-179770557
hg38 2:178905830-178905830 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000002.11:g.179770557 C>G (Genome Assembly: GRCh37) |
| 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2962 |
| CADD Raw score (version 1.3) | 0.082603 (Deleterious) |
| FATHMM raw prediction score | 0.19819 (Tolerated) |
| Deleterious probability by DeFine | 0.6052 (Deleterious) |
| Entrez Gene ID | 285025 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CCDC141 (GeneCards) |
| Number of variants in CCDC141 in this database | 5 (view all the variants) |
| Full name | coiled-coil domain containing 141 |
| Band | 2q31.2 |
| Other IDs | Vega: OTTHUMG00000132578 OMIM: 616031 HGNC: HGNC:26821 Ensembl: ENSG00000163492 |
| Other names | CAMDI |
| Summary | None |
| Individual ID | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |