| Variant ID | 15823 |
|---|---|
| Entrez Gene ID | 10714 |
| Gene | POLD3 (GeneCards) |
| Location | hg19 11:74381158-74381158
hg38 11:74670113-74670113 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.74381158 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2779 |
| CADD Raw score (version 1.3) | 0.708912 (Deleterious) |
| FATHMM raw prediction score | 0.17427 (Tolerated) |
| Deleterious probability by DeFine | 0.6867 (Deleterious) |
| Entrez Gene ID | 10714 (NCBI Gene) |
|---|---|
| Official Gene Symbol | POLD3 (GeneCards) |
| Number of variants in POLD3 in this database | 1 (view all the variants) |
| Full name | DNA polymerase delta 3, accessory subunit |
| Band | 11q13.4 |
| Other IDs | Vega: OTTHUMG00000165621 OMIM: 611415 HGNC: HGNC:20932 Ensembl: ENSG00000077514 |
| Other names | P66, P68, PPP1R128 |
| Summary | This gene encodes the 66-kDa subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein plays a role in regulating the activity of DNA polymerase delta through interactions with other subunits and the processivity cofactor proliferating cell nuclear antigen (PCNA). Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012] |
| 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; |