| Variant ID | 21500 |
|---|---|
| Entrez Gene ID | 101927117 |
| Gene | PLCG1-AS1 (GeneCards) |
| Location | hg19 20:39743612-39743612
hg38 20:41114972-41114972 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.39743612 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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.459 |
| CADD Raw score (version 1.3) | -0.129067 (Deleterious) |
| FATHMM raw prediction score | 0.13287 (Tolerated) |
| Deleterious probability by DeFine | 0.6109 (Deleterious) |
| Entrez Gene ID | 101927117 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PLCG1-AS1 (GeneCards) |
| Number of variants in PLCG1-AS1 in this database | 2 (view all the variants) |
| Full name | PLCG1 antisense RNA 1 |
| Band | 20q12 |
| Other IDs | HGNC: HGNC:40450 Ensembl: ENSG00000226648 |
| Other names | TOP1-AS1 |
| Summary | None |
| 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; |