| Variant ID | 21467 |
|---|---|
| Entrez Gene ID | 140862 |
| Gene | ISM1 (GeneCards) |
| Location | hg19 20:13254478-13254478
hg38 20:13273831-13273831 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.13254478 A>G (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 | 0.2288 |
| CADD Raw score (version 1.3) | 0.170703 (Deleterious) |
| FATHMM raw prediction score | 0.14685 (Tolerated) |
| Deleterious probability by DeFine | 0.6965 (Deleterious) |
| Entrez Gene ID | 140862 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ISM1 (GeneCards) |
| Number of variants in ISM1 in this database | 4 (view all the variants) |
| Full name | isthmin 1 |
| Band | 20p12.1 |
| Other IDs | Vega: OTTHUMG00000031902 OMIM: 615793 HGNC: HGNC:16213 Ensembl: ENSG00000101230 |
| Other names | ISM, Isthmin, C20orf82, bA149I18.1, dJ1077I2.1 |
| Summary | None |
| 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; |