| Variant ID | 27587 |
|---|---|
| Entrez Gene ID | 55297 |
| Gene | CCDC91 (GeneCards) |
| Location | hg19 12:28852279-28852279
hg38 12:28699346-28699346 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000012.11:g.28852279 G>T (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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1959 |
| CADD Raw score (version 1.3) | 0.883853 (Deleterious) |
| FATHMM raw prediction score | 0.05578 (Tolerated) |
| Deleterious probability by DeFine | 0.1966 (Neutral) |
| Entrez Gene ID | 55297 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CCDC91 (GeneCards) |
| Number of variants in CCDC91 in this database | 10 (view all the variants) |
| Full name | coiled-coil domain containing 91 |
| Band | 12p11.22 |
| Other IDs | Vega: OTTHUMG00000169141 OMIM: 617366 HGNC: HGNC:24855 Ensembl: ENSG00000123106 |
| Other names | p56, HSD8 |
| 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 |