| Variant ID | 29372 |
|---|---|
| Entrez Gene ID | 5557 |
| Gene | PRIM1 (GeneCards) |
| Location | hg19 12:57144858-57144858
hg38 12:56751074-56751074 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000012.11:g.57144858 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8076 |
| CADD Raw score (version 1.3) | 0.82634 (Deleterious) |
| FATHMM raw prediction score | 0.86639 (Tolerated) |
| Deleterious probability by DeFine | 0.5708 (Deleterious) |
| Entrez Gene ID | 5557 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PRIM1 (GeneCards) |
| Number of variants in PRIM1 in this database | 1 (view all the variants) |
| Full name | DNA primase subunit 1 |
| Band | 12q13.3 |
| Other IDs | Vega: OTTHUMG00000170034 OMIM: 176635 HGNC: HGNC:9369 Ensembl: ENSG00000198056 |
| Other names | p49 |
| Summary | The replication of DNA in eukaryotic cells is carried out by a complex chromosomal replication apparatus, in which DNA polymerase alpha and primase are two key enzymatic components. Primase, which is a heterodimer of a small subunit and a large subunit, synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. The protein encoded by this gene is the small, 49 kDa primase subunit. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.48 (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; |