| Variant ID | 34709 |
|---|---|
| Entrez Gene ID | 55083 |
| Gene | KIF26B (GeneCards) |
| Location | hg19 1:245849059-245849059
hg38 1:245685757-245685757 |
| Disease | Asymptomatic |
| Method | Whole Exome Sequencing Target Amplicon Sequencing Pyrosequencing |
| Mutation(HGVS format) | NC_000001.10:g.245849059 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 12 |
| Position in protein | 925 |
| Amino acid changes in protein | T > M |
| Position in cDNA | 2774 |
| Changes in cDNA | C > T |
| mRNA accession | NM_018012.3 |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7379 |
| CADD Raw score (version 1.3) | 3.824106 (Deleterious) |
| FATHMM raw prediction score | 0.98257 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.445 (Deleterious) |
| PROVEAN score | -5.54 (Deleterious) |
| MetaSVM score | 0.693 (Deleterious) |
| MetaLR score | 0.787 (Deleterious) |
| MCAP score | 0.235 (Deleterious) |
| FitCons score | 0.563 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.71 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.105 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.855 |
| Deleterious probability by iFish2 | 0.5855 (Deleterious) |
| Deleterious probability by DeFine | 0.9679 (Deleterious) |
| Entrez Gene ID | 55083 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KIF26B (GeneCards) |
| Number of variants in KIF26B in this database | 6 (view all the variants) |
| Full name | kinesin family member 26B |
| Band | 1q44 |
| Other IDs | Vega: OTTHUMG00000040079 OMIM: 614026 HGNC: HGNC:25484 Ensembl: ENSG00000162849 |
| Other names | None |
| Summary | The protein encoded by this gene is an intracellular motor protein thought to transport organelles along microtubules. The encoded protein is required for kidney development. Elevated levels of this protein have been found in some breast and colorectal cancers. [provided by RefSeq, Mar 2017] |
| Individual ID | 29654278.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29654278 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29654278 |
|---|---|
| Title | Identification of somatic mutations in monozygotic twins discordant for psychiatric disorders |
| Journal | NPJ Schizophrenia |
| Publication date | 2018.04 |
| Disease | Delusional Disorder |
| Number of cases | Female cases: 2; |