| Variant ID | 23890 |
|---|---|
| Entrez Gene ID | 84643 |
| Gene | KIF2B (GeneCards) |
| Location | hg19 17:52713553-52713553
hg38 17:54636192-54636192 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000017.10:g.52713553 C>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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3433 |
| CADD Raw score (version 1.3) | 0.146399 (Deleterious) |
| FATHMM raw prediction score | 0.12832 (Tolerated) |
| Deleterious probability by DeFine | 0.2194 (Neutral) |
| Entrez Gene ID | 84643 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KIF2B (GeneCards) |
| Number of variants in KIF2B in this database | 22 (view all the variants) |
| Full name | kinesin family member 2B |
| Band | 17q22 |
| Other IDs | Vega: OTTHUMG00000177756 OMIM: 615142 HGNC: HGNC:29443 Ensembl: ENSG00000141200 |
| 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; |