| Variant ID | 1131 |
|---|---|
| Entrez Gene ID | 84643 |
| Gene | KIF2B (GeneCards) |
| Location | hg19 17:51900854-51900854
hg38 17:53823493-53823493 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000017.10:g.51900854 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 154 |
| Amino acid changes in protein | Q > * |
| 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 | 0.6574 |
| CADD Raw score (version 1.3) | 8.816943 (Deleterious) |
| FATHMM raw prediction score | 0.97289 (Tolerated) |
| LRT score | 0.003 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.5 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.55 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.871 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.471 |
| Deleterious probability by DeFine | 0.9437 (Deleterious) |
| 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 | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |