| Variant ID | 8599 |
|---|---|
| Entrez Gene ID | 93166 |
| Gene | PRDM6 (GeneCards) |
| Location | hg19 5:122524564-122524564
hg38 5:123188870-123188870 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.122524564 C>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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0329 |
| CADD Raw score (version 1.3) | -0.033644 (Deleterious) |
| FATHMM raw prediction score | 0.16893 (Tolerated) |
| Deleterious probability by DeFine | 0.6218 (Deleterious) |
| Entrez Gene ID | 93166 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PRDM6 (GeneCards) |
| Number of variants in PRDM6 in this database | 6 (view all the variants) |
| Full name | PR/SET domain 6 |
| Band | 5q23.2 |
| Other IDs | Vega: OTTHUMG00000150469 OMIM: 616982 HGNC: HGNC:9350 Ensembl: ENSG00000061455 |
| Other names | PDA3, KMT8C, PRISM |
| Summary | The protein encoded by this gene is a transcriptional repressor and a member of the PRDM family. Family members contain a PR domain and multiple zinc-finger domains. The encoded protein is involved in regulation of vascular smooth muscle cells (VSMC) contractile proteins. Mutations in this gene result in patent ductus arteriosus 3 (PDA3). [provided by RefSeq, Apr 2017] |
| Individual ID | 29217584.16 (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; |