| Variant ID | 11373 |
|---|---|
| Entrez Gene ID | 168448 |
| Gene | CDC14C (GeneCards) |
| Location | hg19 7:49541421-49541421
hg38 7:49501825-49501825 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.49541421 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0596 |
| CADD Raw score (version 1.3) | -0.136587 (Deleterious) |
| FATHMM raw prediction score | 0.11863 (Tolerated) |
| Deleterious probability by DeFine | 0.3547 (Neutral) |
| Entrez Gene ID | 168448 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CDC14C (GeneCards) |
| Number of variants in CDC14C in this database | 8 (view all the variants) |
| Full name | cell division cycle 14C |
| Band | 7p12.3 |
| Other IDs | HGNC: HGNC:22427 |
| Other names | CDC14B2, CDC14Bretro |
| Summary | This gene represents a retrogene of cell division cycle 14B (CDC14B), which is located on chromosome 9. The introns in the coding sequence have been processed out relative to the CDC14B locus, but there is an intact open reading frame that is missing only some sequence at the N-terminus, including the nuclear localiztion signal, relative to proteins encoded by the CDC14B gene. There is a difference in the subcellular localization of the protein encoded by this gene, relative to its parental gene product. While the parental gene product displays microtubular localization, GFP chimeras of the protein encoded by this gene localize to the endoplasmic reticulum, indicating a possible new functional role for this gene. [provided by RefSeq, Nov 2017] |
| Individual ID | 29217584.17 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |