| Variant ID | 10125 |
|---|---|
| Entrez Gene ID | 5558 |
| Gene | PRIM2 (GeneCards) |
| Location | hg19 6:57535719-57535719
hg38 6:60567972-60567972 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.57535719 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0388 |
| CADD Raw score (version 1.3) | 0.175174 (Deleterious) |
| FATHMM raw prediction score | 0.17996 (Tolerated) |
| Deleterious probability by DeFine | 0.3998 (Neutral) |
| Entrez Gene ID | 5558 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PRIM2 (GeneCards) |
| Number of variants in PRIM2 in this database | 17 (view all the variants) |
| Full name | DNA primase subunit 2 |
| Band | 6p11.2 |
| Other IDs | Vega: OTTHUMG00000016190 OMIM: 176636 HGNC: HGNC:9370 Ensembl: ENSG00000146143 |
| Other names | p58, PRIM2A |
| Summary | This gene encodes the 58 kilodalton subunit of DNA primase, an enzyme that plays a key role in the replication of DNA. The encoded protein forms a heterodimer with a 49 kilodalton subunit. This heterodimer functions as a DNA-directed RNA polymerase to synthesize small RNA primers that are used to create Okazaki fragments on the lagging strand of the DNA. Alternative splicing of this gene results in multiple transcript variants. This gene has a related pseudogene, which is also present on chromosome 6. [provided by RefSeq, Apr 2014] |
| Individual ID | 29217584.19 (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; |