| Variant ID | 26831 |
|---|---|
| Entrez Gene ID | 203238 |
| Gene | CCDC171 (GeneCards) |
| Location | hg19 9:16112327-16112327
hg38 9:16112329-16112329 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000009.11:g.16112327 C>A (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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0278 |
| CADD Raw score (version 1.3) | 0.756969 (Deleterious) |
| FATHMM raw prediction score | 0.20783 (Tolerated) |
| Deleterious probability by DeFine | 0.3944 (Neutral) |
| Entrez Gene ID | 203238 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CCDC171 (GeneCards) |
| Number of variants in CCDC171 in this database | 13 (view all the variants) |
| Full name | coiled-coil domain containing 171 |
| Band | 9p22.3 |
| Other IDs | Vega: OTTHUMG00000019584 HGNC: HGNC:29828 Ensembl: ENSG00000164989 |
| Other names | C9orf93, bA536D16.1, bA778P13.1 |
| Summary | None |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |