| Variant ID | 7838 |
|---|---|
| Entrez Gene ID | 285643 |
| Gene | KIF4B (GeneCards) |
| Location | hg19 5:154675252-154675252
hg38 5:155295692-155295692 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.154675252 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1708 |
| CADD Raw score (version 1.3) | 0.201255 (Deleterious) |
| FATHMM raw prediction score | 0.13702 (Tolerated) |
| Deleterious probability by DeFine | 0.5144 (Deleterious) |
| Entrez Gene ID | 285643 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KIF4B (GeneCards) |
| Number of variants in KIF4B in this database | 25 (view all the variants) |
| Full name | kinesin family member 4B |
| Band | 5q33.2 |
| Other IDs | Vega: OTTHUMG00000164143 OMIM: 609184 HGNC: HGNC:6322 Ensembl: ENSG00000226650 |
| Other names | None |
| Summary | This gene is an intronless retrocopy of kinesin family member 4A. The protein encoded by this gene is a microtubule-based motor protein that plays vital roles in anaphase spindle dynamics and cytokinesis. [provided by RefSeq, Jul 2016] |
| Individual ID | 29217584.08 (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; |