| Variant ID | 29647 |
|---|---|
| Entrez Gene ID | 5425 |
| Gene | POLD2 (GeneCards) |
| Location | hg19 7:44155381-44155381
hg38 7:44115782-44115782 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000007.13:g.44155381 T>C (Genome Assembly: hg19) |
| 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 | 1.3371 |
| CADD Raw score (version 1.3) | 0.444316 (Deleterious) |
| FATHMM raw prediction score | 0.90531 (Tolerated) |
| Deleterious probability by DeFine | 0.879 (Deleterious) |
| Entrez Gene ID | 5425 (NCBI Gene) |
|---|---|
| Official Gene Symbol | POLD2 (GeneCards) |
| Number of variants in POLD2 in this database | 1 (view all the variants) |
| Full name | DNA polymerase delta 2, accessory subunit |
| Band | 7p13 |
| Other IDs | Vega: OTTHUMG00000022909 OMIM: 600815 HGNC: HGNC:9176 Ensembl: ENSG00000106628 |
| Other names | None |
| Summary | This gene encodes the 50-kDa catalytic 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 is required for the stimulation of DNA polymerase delta activity by the processivity cofactor proliferating cell nuclear antigen (PCNA). Expression of this gene may be a marker for ovarian carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Mar 2012] |
| Individual ID | 28714951.323 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |