| Variant ID | 27458 |
|---|---|
| Entrez Gene ID | 283455 |
| Gene | KSR2 (GeneCards) |
| Location | hg19 12:117911300-117911300
hg38 12:117473495-117473495 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000012.11:g.117911300 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0208 |
| CADD Raw score (version 1.3) | 0.065457 (Deleterious) |
| FATHMM raw prediction score | 0.17072 (Tolerated) |
| Deleterious probability by DeFine | 0.5057 (Deleterious) |
| Entrez Gene ID | 283455 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KSR2 (GeneCards) |
| Number of variants in KSR2 in this database | 11 (view all the variants) |
| Full name | kinase suppressor of ras 2 |
| Band | 12q24.22-q24.23 |
| Other IDs | Vega: OTTHUMG00000169020 OMIM: 610737 HGNC: HGNC:18610 Ensembl: ENSG00000171435 |
| Other names | None |
| Summary | None |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |