| Variant ID | 1013 |
|---|---|
| Entrez Gene ID | 9585 |
| Gene | KIF20B (GeneCards) |
| Location | hg19 10:91474931-91474931
hg38 10:89715174-89715174 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000010.10:g.91474931 T>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 311 |
| Amino acid changes in protein | F > C |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5246 |
| CADD Raw score (version 1.3) | 5.802895 (Deleterious) |
| FATHMM raw prediction score | 0.94156 (Tolerated) |
| SIFT score | 0.005 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.66 (Tolerated) |
| PROVEAN score | -5.71 (Deleterious) |
| MetaSVM score | -0.041 (Tolerated) |
| MetaLR score | 0.47 (Tolerated) |
| MCAP score | 0.112 (Deleterious) |
| FitCons score | 0.651 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.36 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.756 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.151 |
| Deleterious probability by iFish2 | 0.1391 (Neutral) |
| Deleterious probability by DeFine | 0.8113 (Deleterious) |
| Entrez Gene ID | 9585 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KIF20B (GeneCards) |
| Number of variants in KIF20B in this database | 5 (view all the variants) |
| Full name | kinesin family member 20B |
| Band | 10q23.31 |
| Other IDs | Vega: OTTHUMG00000018725 OMIM: 605498 HGNC: HGNC:7212 Ensembl: ENSG00000138182 |
| Other names | CT90, MPP1, KRMP1, MPP-1, MPHOSPH1 |
| 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; |