| Variant ID | 18451 |
|---|---|
| Entrez Gene ID | 53981 |
| Gene | CPSF2 (GeneCards) |
| Location | hg19 14:92669581-92669581
hg38 14:92203237-92203237 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.92669581 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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4111 |
| CADD Raw score (version 1.3) | 0.39323 (Deleterious) |
| FATHMM raw prediction score | 0.04396 (Tolerated) |
| Deleterious probability by DeFine | 0.4223 (Neutral) |
| Entrez Gene ID | 53981 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CPSF2 (GeneCards) |
| Number of variants in CPSF2 in this database | 4 (view all the variants) |
| Full name | cleavage and polyadenylation specific factor 2 |
| Band | 14q32.12 |
| Other IDs | Vega: OTTHUMG00000171181 OMIM: 606028 HGNC: HGNC:2325 Ensembl: ENSG00000165934 |
| Other names | CPSF100 |
| Summary | None |
| Individual ID | 29217584.13 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |