| Variant ID | 2457 |
|---|---|
| Entrez Gene ID | 55083 |
| Gene | KIF26B (GeneCards) |
| Location | hg19 1:245420737-245420737
hg38 1:245257435-245257435 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.245420737 C>T (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1699 |
| CADD Raw score (version 1.3) | -0.099791 (Deleterious) |
| FATHMM raw prediction score | 0.12686 (Tolerated) |
| Deleterious probability by DeFine | 0.6757 (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 | 29217584.13 (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; |