Variant Details for KIF1A
Basic Information Top
| Gene Symbol: | KIF1A ( ATSV,C2orf20,DKFZp686I2094,FLJ30229,HUNC-104,MGC133285,MGC133286,UNC104 ) |
|---|---|
| Gene Full Name: | kinesin family member 1A |
| Band: | 2q37.3 |
| Quick Links | Entrez ID:547; OMIM: 601255; Uniprot ID:KIF1A_HUMAN; ENSEMBL ID: ENSG00000130294; HGNC ID: 888 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 8 | 1 | 1 | 0 | 0 | 0 | 10 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000003 | 2 | 2q37.3 | 238435066 | 242985351 | 4550285 | loss | external link | Sebat, 2007 |
| AutCNV0000002 | 2 | 2q37.2-q37.3 | 236632455 | 242985351 | 6352896 | loss | external link | Sebat, 2007 |
| AutCNV0001199 | 2 | 2q37.3 | 241617673 | 241713429 | 95756 | gain | external link | Pinto, 2010 |
| AutCNV0002420 | 2 | 2q37.3 | 241614249 | 241708675 | 94426 | gain | external link | Pinto, 2010 |
| AutCNV0001636 | 2 | 2q37.3 | 241623894 | 241708675 | 84781 | gain | external link | Pinto, 2010 |
| AutCNV0001635 | 2 | 2q37.3 | 241614249 | 241708675 | 94426 | gain | external link | Pinto, 2010 |
| AutCNV0004214 | 2 | 2q37.3 | 238552327 | 243052430 | 4500103 | loss | external link | Sanders, 2011 |
| AutCNV0004213 | 2 | 2q37.2-q37.3 | 236749716 | 243052430 | 6302714 | loss | external link | Sanders, 2011 |
NGS de novo Mutations TopiFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
| Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 241658532 | C | T | PCR or Sanger sequencing | deleterious | 0.9612 | Iossifov I, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 2 | 241724471 | C | T | Mosaic | Krupp DR, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||