| Variant ID | 21547 |
|---|---|
| Entrez Gene ID | 55614 |
| Gene | KIF16B (GeneCards) |
| Location | hg19 20:16658195-16658195
hg38 20:16677550-16677550 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.16658195 T>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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5391 |
| CADD Raw score (version 1.3) | -0.102957 (Deleterious) |
| FATHMM raw prediction score | 0.06967 (Tolerated) |
| Deleterious probability by DeFine | 0.5559 (Deleterious) |
| Entrez Gene ID | 55614 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KIF16B (GeneCards) |
| Number of variants in KIF16B in this database | 7 (view all the variants) |
| Full name | kinesin family member 16B |
| Band | 20p12.1 |
| Other IDs | Vega: OTTHUMG00000031927 HGNC: HGNC:15869 Ensembl: ENSG00000089177 |
| Other names | SNX23, C20orf23, KISC20ORF |
| Summary | The protein encoded by this gene is a kinesin-like protein that may be involved in intracellular trafficking. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |