| Variant ID | 3545 |
|---|---|
| Entrez Gene ID | 114800 |
| Gene | CCDC85A (GeneCards) |
| Location | hg19 2:57262731-57262731
hg38 2:57035596-57035596 |
| Disease | |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.57262731 G>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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1203 |
| CADD Raw score (version 1.3) | 1.814131 (Deleterious) |
| FATHMM raw prediction score | 0.59879 (Tolerated) |
| Deleterious probability by DeFine | 0.108 (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 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |