| Variant ID | 14615 |
|---|---|
| Entrez Gene ID | 9585 |
| Gene | KIF20B (GeneCards) |
| Location | hg19 10:91469166-91469166
hg38 10:89709409-89709409 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.91469166 G>A (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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 6695048 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | -0.08 |
| CADD Raw score (version 1.3) | 4.607391 (Deleterious) |
| FATHMM raw prediction score | 0.88779 (Tolerated) |
| SIFT score | 0.172 (Tolerated) |
| LRT score | 0.286 (Tolerated) |
| MutationTaster score | 0.764 (Deleterious) |
| MutatioinAssessor score | 1.895 (Tolerated) |
| PROVEAN score | -1.83 (Tolerated) |
| MetaSVM score | -0.465 (Tolerated) |
| MetaLR score | 0.297 (Tolerated) |
| MCAP score | 0.024 (Tolerated) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.24 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.075 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.983 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.874 |
| Deleterious probability by iFish2 | 0.1615 (Neutral) |
| Deleterious probability by DeFine | 0.9058 (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 | 29217584.15 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |