| Variant ID | 939 |
|---|---|
| Entrez Gene ID | 26153 |
| Gene | KIF26A (GeneCards) |
| Location | hg19 14:104639779-104639779
hg38 14:104173442-104173442 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000014.8:g.104639779 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 599 |
| Amino acid changes in protein | R > Q |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003234 |
|---|---|
| EIGEN score | 0.1215 |
| CADD Raw score (version 1.3) | 2.45168 (Deleterious) |
| FATHMM raw prediction score | 0.91017 (Tolerated) |
| SIFT score | 0.051 (Tolerated) |
| MutationTaster score | 0.998 (Deleterious) |
| MutatioinAssessor score | 1.845 (Tolerated) |
| PROVEAN score | -2.09 (Tolerated) |
| MetaSVM score | -0.107 (Tolerated) |
| MetaLR score | 0.481 (Tolerated) |
| MCAP score | 0.386 (Deleterious) |
| FitCons score | 0.696 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.9 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.46 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.964 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.499 |
| Deleterious probability by iFish2 | 0.1365 (Neutral) |
| Deleterious probability by DeFine | 0.9276 (Deleterious) |
| Entrez Gene ID | 26153 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KIF26A (GeneCards) |
| Number of variants in KIF26A in this database | 2 (view all the variants) |
| Full name | kinesin family member 26A |
| Band | 14q32.33 |
| Other IDs | Vega: OTTHUMG00000154986 OMIM: 613231 HGNC: HGNC:20226 Ensembl: ENSG00000066735 |
| Other names | None |
| Summary | None |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |