| Variant ID | 24947 |
|---|---|
| Entrez Gene ID | 114800 |
| Gene | CCDC85A (GeneCards) |
| Location | hg19 2:57763421-57763421
hg38 2:57536286-57536286 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000002.11:g.57763421 A>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 | -0.3466 |
| CADD Raw score (version 1.3) | -0.105437 (Deleterious) |
| FATHMM raw prediction score | 0.05861 (Tolerated) |
| Deleterious probability by DeFine | 0.0872 (Neutral) |
| Entrez Gene ID | 114800 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CCDC85A (GeneCards) |
| Number of variants in CCDC85A in this database | 31 (view all the variants) |
| Full name | coiled-coil domain containing 85A |
| Band | 2p16.1 |
| Other IDs | Vega: OTTHUMG00000152033 HGNC: HGNC:29400 Ensembl: ENSG00000055813 |
| Other names | None |
| 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 |