| Variant ID | 10044 |
|---|---|
| Entrez Gene ID | 5340 |
| Gene | PLG (GeneCards) |
| Location | hg19 6:161256399-161256399
hg38 6:160835367-160835367 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.161256399 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6416 |
| CADD Raw score (version 1.3) | -0.461195 (Deleterious) |
| FATHMM raw prediction score | 0.0347 (Tolerated) |
| Deleterious probability by DeFine | 0.5772 (Deleterious) |
| Entrez Gene ID | 5340 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PLG (GeneCards) |
| Number of variants in PLG in this database | 3 (view all the variants) |
| Full name | plasminogen |
| Band | 6q26 |
| Other IDs | Vega: OTTHUMG00000015957 OMIM: 173350 HGNC: HGNC:9071 Ensembl: ENSG00000122194 |
| Other names | None |
| Summary | The protein encoded by this gene is a secreted blood zymogen that is activated by proteolysis and converted to plasmin and angiostatin. Plasmin dissolves fibrin in blood clots and is an important protease in many other cellular processes while angiostatin inhibits angiogenesis. Defects in this gene are likely a cause of thrombophilia and ligneous conjunctivitis. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009] |
| 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; |