| Variant ID | 20689 |
|---|---|
| Entrez Gene ID | 5366 |
| Gene | PMAIP1 (GeneCards) |
| Location | hg19 18:57827027-57827027
hg38 18:60159794-60159794 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.57827027 G>C (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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0158 |
| CADD Raw score (version 1.3) | -0.034972 (Deleterious) |
| FATHMM raw prediction score | 0.13745 (Tolerated) |
| Deleterious probability by DeFine | 0.4907 (Neutral) |
| Entrez Gene ID | 5366 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PMAIP1 (GeneCards) |
| Number of variants in PMAIP1 in this database | 11 (view all the variants) |
| Full name | phorbol-12-myristate-13-acetate-induced protein 1 |
| Band | 18q21.32 |
| Other IDs | Vega: OTTHUMG00000132765 OMIM: 604959 HGNC: HGNC:9108 Ensembl: ENSG00000141682 |
| Other names | APR, NOXA |
| Summary | None |
| Individual ID | 29217584.17 (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; |