| Variant ID | 23626 |
|---|---|
| Entrez Gene ID | 283455 |
| Gene | KSR2 (GeneCards) |
| Location | hg19 12:118164154-118164154
hg38 12:117726349-117726349 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000012.11:g.118164154 C>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) | 0.00006461 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs191155246 |
| EIGEN score | -0.3321 |
| CADD Raw score (version 1.3) | -0.146876 (Deleterious) |
| FATHMM raw prediction score | 0.04825 (Tolerated) |
| Deleterious probability by DeFine | 0.2256 (Neutral) |
| 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 | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |