| Variant ID | 28630 |
|---|---|
| Entrez Gene ID | 140862 |
| Gene | ISM1 (GeneCards) |
| Location | hg19 20:13263727-13263727
hg38 20:13283080-13283080 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000020.10:g.13263727 G>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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4537 |
| CADD Raw score (version 1.3) | -0.216544 (Deleterious) |
| FATHMM raw prediction score | 0.09829 (Tolerated) |
| Deleterious probability by DeFine | 0.0719 (Neutral) |
| 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 | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |