| Variant ID | 9768 |
|---|---|
| Entrez Gene ID | 63971 |
| Gene | KIF13A (GeneCards) |
| Location | hg19 6:17919829-17919829
hg38 6:17919598-17919598 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.17919829 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0808 |
| CADD Raw score (version 1.3) | 0.033066 (Deleterious) |
| FATHMM raw prediction score | 0.10162 (Tolerated) |
| Deleterious probability by DeFine | 0.5212 (Deleterious) |
| Entrez Gene ID | 63971 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KIF13A (GeneCards) |
| Number of variants in KIF13A in this database | 6 (view all the variants) |
| Full name | kinesin family member 13A |
| Band | 6p22.3 |
| Other IDs | Vega: OTTHUMG00000014313 OMIM: 605433 HGNC: HGNC:14566 Ensembl: ENSG00000137177 |
| Other names | RBKIN, bA500C11.2 |
| Summary | This gene encodes a member of the kinesin family of microtubule-based motor proteins that function in the positioning of endosomes. This family member can direct mannose-6-phosphate receptor-containing vesicles from the trans-Golgi network to the plasma membrane, and it is necessary for the steady-state distribution of late endosomes/lysosomes. It is also required for the translocation of FYVE-CENT and TTC19 from the centrosome to the midbody during cytokinesis, and it plays a role in melanosome maturation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011] |
| 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; |